| 1 |
 |
|
Pappa2
|
0.000
|
|
1 |
158711727-158980490 bp (-)
|
158782403 |
Autosomal Recessive (2;10)
|
2019-01-15
Diantha La Vine
|
Body Weight - decreased
Body Weight (BP) - decreased
|
| 2 |
|
|
Pappa2
|
0.000
|
|
1 |
158711727-158980490 bp (-)
|
158716990 |
Autosomal Semidominant (2;11)
|
2019-01-15
Diantha La Vine
|
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
|
| 3 |
|
|
Pappa2
|
0.000
|
|
1 |
158711727-158980490 bp (-)
|
158834918 |
Unknown (2;0)
Autosomal Dominant (1;4)
Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
|
2019-01-15
Diantha La Vine
|
Body Weight (Female) - decreased
FACS B1b cells - decreased
growth/size
|
| 4 |
|
|
Rasgrp1
|
0.285
|
|
2 |
117279993-117343001 bp (-)
|
117291792 |
Autosomal Recessive (26;515)
Autosomal Semidominant (2;8)
|
2019-01-10
Anne Murray
|
FACS B:T cells - increased
FACS B1b cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
|
| 5 |
|
|
Wdr41
|
0.000
|
|
13 |
94976344-95023314 bp (+)
|
95015174 |
Unknown
|
2019-01-09
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
|
| 6 |
|
|
Wdr41
|
0.000
|
|
13 |
94976344-95023314 bp (+)
|
95015217 |
Autosomal Recessive (13;82)
Autosomal Semidominant (3;16)
|
2019-01-09
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
|
| 7 |
|
|
Tcf12
|
1.000
|
|
9 |
71842688-72111871 bp (-)
|
72015636 |
Autosomal Semidominant (6;31)
|
2019-01-09
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
|
| 8 |
|
|
Tcf12
|
1.000
|
|
9 |
71842688-72111871 bp (-)
|
71858929 |
Autosomal Dominant (1;6)
Autosomal Semidominant (5;36)
|
2019-01-09
Diantha La Vine
|
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
|
| 9 |
|
|
Tcf12
|
1.000
|
|
9 |
71842688-72111871 bp (-)
|
71944016 |
Autosomal Dominant (1;5)
|
2019-01-09
Diantha La Vine
|
FACS central memory CD8 T cells in CD8 T cells - increased
|
| 10 |
|
|
Fas
|
0.091
|
|
19 |
34290659-34327770 bp (+)
|
34316569 |
Autosomal Recessive (3;19)
|
2019-01-08
Anne Murray
|
FACS B220 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
|
| 11 |
|
|
Elmo1
|
0.000
|
|
13 |
20090596-20608353 bp (+)
|
20373161 |
Autosomal Dominant (1;6)
Autosomal Recessive (2;11)
|
2019-01-07
Anne Murray
|
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
|
| 12 |
|
|
Hcfc2
|
0.220
|
|
10 |
82696160-82742428 bp (+)
|
82738408 |
Unknown (2;0)
|
2019-01-07
Anne Murray
|
TLR signaling defect: TNF production by macrophages
|
| 13 |
|
|
Smcr8
|
0.000
|
|
11 |
60777524-60788287 bp (+)
|
60778032 |
Autosomal Recessive (7;38)
Autosomal Semidominant (1;6)
|
2019-01-07
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
|
| 14 |
|
|
Smcr8
|
0.000
|
|
11 |
60777524-60788287 bp (+)
|
60778028 |
Autosomal Recessive (4;23)
Autosomal Semidominant (2;10)
|
2019-01-07
Anne Murray
|
125-03 Response - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
|
| 15 |
|
|
Smcr8
|
0.000
|
|
11 |
60777524-60788287 bp (+)
|
60779870 |
Autosomal Recessive (5;24)
|
2019-01-07
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
|
| 16 |
|
|
Fas
|
0.091
|
|
19 |
34290659-34327770 bp (+)
|
34327140 |
Autosomal Recessive (7;38)
|
2019-01-07
Diantha La Vine
|
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1b cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
|
| 17 |
|
|
Elmo1
|
0.000
|
|
13 |
20090596-20608353 bp (+)
|
20600212 |
Autosomal Dominant (3;7)
Autosomal Recessive (4;15)
|
2019-01-05
Diantha La Vine
|
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
|
| 18 |
|
|
Elmo1
|
0.000
|
|
13 |
20090596-20608353 bp (+)
|
20290383 |
Autosomal Recessive (4;26)
Autosomal Semidominant (4;27)
|
2019-01-05
Diantha La Vine
|
FACS B cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 19 |
|
|
Lepr
|
0.000
|
|
4 |
101717404-101815352 bp (+)
|
101792023 |
Autosomal Recessive (46;548)
Autosomal Semidominant (3;12)
|
2018-12-20
Anne Murray
|
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 3 - decreased
Blood Pressure: SBP Average - decreased
Blood Pressure: SBP Day 1 - decreased
Blood Pressure: SBP Day 3 - decreased
Body Weight - increased
Body Weight (BP Female) - increased
Body Weight (BP Male) - increased
Body Weight (BP) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Bone: Liver Fat - increased
Bone: Liver Fat (female) - increased
Bone: Liver Fat (male) - increased
Bone: Liver Fat (normalized) - decreased
Bone: Liver Fat (normalized, female) - decreased
Bone: Liver Fat (normalized, male) - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
growth/size
|
| 20 |
|
|
Hcn2
|
0.542
|
|
10 |
79716634-79736108 bp (+)
|
79733773 |
Autosomal Recessive (13;80)
|
2018-12-20
Anne Murray
|
Body Weight - decreased
Body Weight (BP Male) - decreased
Body Weight (BP) - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS T cells - increased
Motor: Rotarod Weight - decreased
|
| 21 |
|
|
Il12a
|
0.000
|
|
3 |
68690644-68698547 bp (+)
|
68697987 |
Autosomal Recessive (1;5)
|
2018-12-20
Anne Murray
|
MCMV proliferation in macrophages - increased
MCMV susceptibility
|
| 22 |
|
|
Nedd9
|
0.000
|
|
13 |
41309581-41487362 bp (-)
|
41338979 |
Autosomal Recessive (5;29)
|
2018-12-19
Diantha La Vine
|
FACS B1a cells in B1 cells - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
|
| 23 |
|
|
Prkce
|
0.000
|
|
17 |
86167785-86657919 bp (+)
|
86476851 |
Autosomal Semidominant (1;5)
|
2018-12-19
Anne Murray
|
FACS NK cells - decreased
|
| 24 |
|
|
Adra2a
|
0.000
|
|
19 |
54045182-54048982 bp (+)
|
54046639 |
Autosomal Recessive (4;19)
Autosomal Semidominant (2;7)
|
2018-12-19
Anne Murray
|
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
30 Min. Insulin (Female) - increased
|
| 25 |
|
|
Adra2a
|
0.000
|
|
19 |
54045182-54048982 bp (+)
|
54046495 |
Autosomal Recessive (9;48)
Autosomal Semidominant (4;19)
|
2018-12-19
Anne Murray
|
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
30 Min. Insulin - increased
30 Min. Insulin (Female) - increased
30 Min. Insulin (Male) - increased
Body Weight (Female) - decreased
Fasting Insulin (Male) - increased
|
| 26 |
|
|
Klhl6
|
0.082
|
|
16 |
19946496-19983037 bp (-)
|
19957043 |
Autosomal Semidominant (4;25)
|
2018-12-18
Anne Murray
|
FACS B1a cells - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
|
| 27 |
|
|
Wdr81
|
1.000
|
|
11 |
75440944-75454717 bp (-)
|
75441812 |
Autosomal Recessive (2;11)
|
2018-12-18
Anne Murray
|
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Male) - decreased
|
| 28 |
|
|
Il2rb
|
0.116
|
|
15 |
78479256-78495271 bp (-)
|
78491848 |
Autosomal Recessive (49;496)
|
2018-12-18
Anne Murray
|
Blood Pressure: DBP Average - increased
Blood Pressure: DBP Day 2 - increased
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 2 - decreased
Blood Pressure: MBP Average - increased
Blood Pressure: MBP Day 2 - increased
Body Weight (BP Female) - decreased
Body Weight (BP) - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - increased
|
| 29 |
|
|
Fbp1
|
0.378
|
|
13 |
62864753-62888282 bp (-)
|
62875261 |
Autosomal Recessive (5;42)
|
2018-12-18
Anne Murray
|
fasting hypoglycemia
fasting hypoglycemia (female)
fasting hypoglycemia (male)
|
| 30 |
|
|
Lig4
|
1.000
|
|
8 |
9969049-9977686 bp (-)
|
9972955 |
Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
|
2018-12-18
Anne Murray
|
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
| 31 |
|
|
Lig4
|
1.000
|
|
8 |
9969049-9977686 bp (-)
|
9971585 |
Autosomal Recessive (3;17)
|
2018-12-18
Anne Murray
|
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
| 32 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85628735 |
Autosomal Recessive (16;132)
|
2018-12-18
Anne Murray
|
Body Weight - increased
Body Weight (BP Female) - increased
Body Weight (BP) - increased
Body Weight (Female) - increased
|
| 33 |
|
|
Irf1
|
0.000
|
|
11 |
53770014-53778374 bp (+)
|
53775936 |
Autosomal Semidominant (3;18)
|
2018-12-18
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
|
| 34 |
|
|
Irf1
|
0.000
|
|
11 |
53770014-53778374 bp (+)
|
53771322 |
Autosomal Recessive (4;52)
Autosomal Semidominant (1;8)
|
2018-12-18
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS NK cells - decreased
|
| 35 |
|
|
Irf1
|
0.000
|
|
11 |
53770014-53778374 bp (+)
|
53772891 |
Unknown (2;0)
|
2018-12-17
Diantha La Vine
|
FACS CD8+ T cells - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
TLR signaling defect: type I IFN production by macrophages
|
| 36 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11879496 |
Autosomal Dominant (1;4)
Autosomal Recessive (14;60)
Autosomal Semidominant (3;23)
|
2018-12-14
Anne Murray
|
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 2 - decreased
Blood Pressure: HR Day 3 - decreased
|
| 37 |
|
|
Tlr9
|
0.111
|
|
9 |
106222598-106226883 bp (+)
|
106225007 |
Unknown (3;0)
|
2018-12-14
Diantha La Vine
|
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
|
| 38 |
|
|
Tlr7
|
0.129
|
|
X |
167304929-167330558 bp (-)
|
167308286 |
Unknown (1;0)
|
2018-12-14
Diantha La Vine
|
immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
|
| 39 |
|
|
Tlr6
|
0.192
|
|
5 |
64952031-64960097 bp (-)
|
64954583 |
Unknown (1;0)
|
2018-12-14
Diantha La Vine
|
immune system
TLR signaling defect: TNF production by macrophages
|
| 40 |
|
|
Tlr2
|
0.000
|
|
3 |
83836272-83841767 bp (-)
|
83837315 |
Unknown (1;0)
|
2018-12-14
Diantha La Vine
|
immune system
TLR signaling defect: TNF production by macrophages
|
| 41 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66841097 |
Unknown (1;0)
|
2018-12-14
Diantha La Vine
|
immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
|
| 42 |
|
|
Gimap1
|
0.055
|
|
6 |
48739054-48743795 bp (+)
|
48743098 |
Autosomal Recessive (6;58)
|
2018-12-12
Anne Murray
|
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD MFI - decreased
FACS IgM MFI - increased
|
| 43 |
|
|
Mc4r
|
0.062
|
|
18 |
66857715-66860472 bp (-)
|
66859142 |
Unknown
|
2018-12-10
Diantha La Vine
|
adipose tissue
growth/size
|
| 44 |
|
|
Klhl6
|
0.082
|
|
16 |
19946496-19983037 bp (-)
|
19957139 |
Autosomal Recessive (4;26)
|
2018-12-10
Anne Murray
|
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
|
| 45 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85677990 |
Autosomal Recessive (7;56)
Autosomal Semidominant (2;9)
|
2018-12-07
Diantha La Vine
|
30 Min. Insulin (Male) - increased
Body Weight - increased
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
|
| 46 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85627934 |
Autosomal Dominant (1;1)
Autosomal Recessive (17;123)
Autosomal Semidominant (3;10)
|
2018-12-07
Diantha La Vine
|
30 min GTT hyperglycemic
30 Min. Insulin - increased
30 Min. Insulin (Female) - increased
30 Min. Insulin (Male) - increased
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
fasting hyperglycemia
fasting hyperglycemia (female)
fasting hyperglycemia (male)
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
growth/size
NK cell response - decreased
NK killing - decreased
|
| 47 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85621275 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
|
2018-12-07
Diantha La Vine
|
Body Weight - increased
Body Weight (Male) - increased
growth/size
|
| 48 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85619712 |
Autosomal Recessive (1;5)
|
2018-12-07
Diantha La Vine
|
Body Weight - increased
Body Weight (BP Female) - increased
|
| 49 |
|
|
Hcn2
|
0.542
|
|
10 |
79716634-79736108 bp (+)
|
79724786 |
Autosomal Recessive (7;38)
|
2018-12-07
Diantha La Vine
|
behavior/neurological
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
|
| 50 |
|
|
Cacna1a
|
0.712
|
|
8 |
84388440-84640246 bp (+)
|
84588753 |
Autosomal Dominant (1;4)
Autosomal Recessive (5;22)
|
2018-12-06
Anne Murray
|
behavior/neurological
Motor: Rotarod Weight - decreased
|
| 51 |
|
|
Zfp318
|
0.000
|
|
17 |
46383731-46420920 bp (+)
|
46409692 |
Autosomal Semidominant (4;24)
|
2018-12-06
Anne Murray
|
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS IgD MFI - decreased
|
| 52 |
|
|
Sema4c
|
1.000
|
|
1 |
36548639-36558349 bp (-)
|
36550311 |
Autosomal Recessive (1;3)
|
2018-12-05
Anne Murray
|
pigmentation
skin/coat/nails
|
| 53 |
|
|
Ebf1
|
0.929
|
|
11 |
44617317-45008091 bp (+)
|
44883885 |
Autosomal Dominant (13;122)
|
2018-12-04
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS NK cells - decreased
FACS T cells - increased
|
| 54 |
|
|
Cd3e
|
0.000
|
|
9 |
44998740-45009627 bp (-)
|
45001128 |
Autosomal Recessive (8;58)
|
2018-11-30
Anne Murray
|
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
|
| 55 |
|
|
Irf8
|
0.000
|
|
8 |
120736358-120756694 bp (+)
|
120753707 |
Autosomal Recessive (3;23)
|
2018-11-30
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
|
| 56 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34503413 |
Autosomal Dominant (1;5)
Autosomal Recessive (5;52)
Autosomal Semidominant (4;54)
|
2018-11-30
Anne Murray
|
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
|
| 57 |
|
|
Cd3e
|
0.000
|
|
9 |
44998740-45009627 bp (-)
|
45006150 |
Unknown (1;0)
|
2018-11-30
Diantha La Vine
|
hematopoietic system
immune system
|
| 58 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34294170 |
Autosomal Recessive (3;32)
|
2018-11-29
Diantha La Vine
|
OVA-specific IgE - increased
|
| 59 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34258184 |
Unknown (1;0)
|
2018-11-29
Diantha La Vine
|
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 60 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34248572 |
Unknown (2;0)
|
2018-11-29
Diantha La Vine
|
FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 61 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34229472 |
Autosomal Recessive (2;25)
Autosomal Semidominant (2;10)
|
2018-11-29
Diantha La Vine
|
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
total IgE level - increased
|
| 62 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34248636 |
Unknown (1;0)
|
2018-11-29
Diantha La Vine
|
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 63 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34689760 |
Autosomal Recessive (1;6)
Autosomal Semidominant (3;18)
|
2018-11-29
Diantha La Vine
|
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
|
| 64 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34708793 |
Autosomal Recessive (3;14)
|
2018-11-29
Diantha La Vine
|
FACS B1b cells in B1 cells - increased
FACS CD4+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
|
| 65 |
|
|
Irf8
|
0.000
|
|
8 |
120736358-120756694 bp (+)
|
120743883 |
Unknown (2;0)
|
2018-11-29
Diantha La Vine
|
cellular phenotype
FACS CD8+ T cells - decreased
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
|
| 66 |
|
|
Dsg4
|
0.608
|
|
18 |
20436175-20471821 bp (+)
|
20451862 |
Autosomal Recessive (1;5)
|
2018-11-29
Anne Murray
|
skin/coat/nails
|
| 67 |
|
|
Ikbkb
|
1.000
|
|
8 |
22659212-22706589 bp (-)
|
22666020 |
Autosomal Recessive (2;8)
Autosomal Semidominant (5;22)
|
2018-11-20
Bruce Beutler
|
IgG1 response to a Cysteine Protease (Papain) - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T MFI - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hyposensitivity to MALP2
|
| 68 |
|
|
Psap
|
1.000
|
|
10 |
60277627-60302597 bp (+)
|
60300851 |
Autosomal Dominant (1;1)
Autosomal Recessive (1;3)
|
2018-11-16
Anne Murray
|
behavior/neurological
fasting hyperglycemia
|
| 69 |
|
|
Il4ra
|
0.056
|
|
7 |
125552120-125579474 bp (+)
|
125567221 |
Autosomal Dominant (1;2)
Autosomal Semidominant (1;5)
|
2018-11-16
Anne Murray
|
OVA-specific IgE - decreased
total IgE level - decreased
|
| 70 |
|
|
Gsdmd
|
0.000
|
|
15 |
75862327-75867408 bp (+)
|
75864357 |
Autosomal Recessive (1;9)
|
2018-11-16
Anne Murray
|
Nlrc4 inflammasome: low response
|
| 71 |
|
|
Hcn1
|
0.092
|
|
13 |
117602320-117987418 bp (+)
|
117873905 |
Autosomal Recessive (1;8)
Autosomal Semidominant (2;16)
|
2018-11-16
Anne Murray
|
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 2 - decreased
Blood Pressure: HR Day 3 - decreased
|
| 72 |
|
|
Ticam2
|
0.000
|
|
18 |
46559155-46574533 bp (-)
|
46560651 |
Autosomal Dominant (2;6)
Autosomal Semidominant (1;4)
|
2018-11-15
Anne Murray
|
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
|
| 73 |
|
|
Ifnar1
|
0.000
|
|
16 |
91485238-91507441 bp (+)
|
91499885 |
Unknown (1;0)
|
2018-11-07
Diantha La Vine
|
adenovirus infection of macrophages - increased
immune system
influenza proliferation in macrophages - increased
MCMV proliferation in macrophages - increased
MCMV susceptibility
RVFV proliferation in macrophages - increased
|
| 74 |
|
|
Ifnar1
|
0.000
|
|
16 |
91485238-91507441 bp (+)
|
91499537 |
Unknown (1;0)
Autosomal Recessive (7;29)
|
2018-11-06
Diantha La Vine
|
dsDNA induced type I IFN production - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
impaired response to dsDNA- type I IFN production by macrophages
|
| 75 |
|
|
Yap1
|
1.000
|
|
9 |
7931999-8004596 bp (-)
|
8004284 |
Autosomal Semidominant (2;10)
|
2018-11-05
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
|
| 76 |
|
|
Nek8
|
0.600
|
|
11 |
78166106-78176675 bp (-)
|
78173059 |
Autosomal Recessive (25;198)
|
2018-11-05
Anne Murray
|
Blood Pressure: DBP Average - increased
Blood Pressure: DBP Day 1 - increased
Blood Pressure: DBP Day 2 - increased
Blood Pressure: DBP Day 3 - increased
Blood Pressure: MBP Average - increased
Blood Pressure: MBP Day 1 - increased
Blood Pressure: MBP Day 2 - increased
Blood Pressure: MBP Day 3 - increased
Blood Pressure: SBP Average - increased
Blood Pressure: SBP Day 1 - increased
Blood Pressure: SBP Day 2 - increased
Blood Pressure: SBP Day 3 - increased
Body Weight (BP Male) - decreased
Body Weight (BP) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
|
| 77 |
|
|
Rho
|
0.155
|
|
6 |
115931748-115940036 bp (+)
|
115935131 |
Unknown
|
2018-11-01
Diantha La Vine
|
vision/eye
|
| 78 |
|
|
Stk4
|
0.000
|
|
2 |
164070322-164155524 bp (+)
|
164099827 |
Autosomal Recessive (27;309)
|
2018-10-29
Diantha La Vine
|
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
Fasting Insulin (Female) - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
|
| 79 |
|
|
Ebf1
|
0.929
|
|
11 |
44617317-45008091 bp (+)
|
44869169 |
Autosomal Recessive (8;69)
Autosomal Semidominant (1;4)
|
2018-10-26
Anne Murray
|
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
| 80 |
|
|
Vav1
|
0.256
|
|
17 |
57279100-57328031 bp (+)
|
57303079 |
Autosomal Recessive (18;210)
Autosomal Semidominant (2;23)
|
2018-10-25
Diantha La Vine
|
FACS B:T cells - increased
FACS B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - decreased
|
| 81 |
|
|
Ppp3cb
|
0.000
|
|
14 |
20499364-20546573 bp (-)
|
20530942 |
Autosomal Dominant (1;4)
Autosomal Recessive (4;21)
Autosomal Semidominant (7;44)
|
2018-10-25
Diantha La Vine
|
FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
OVA-specific IgE - increased
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
|
| 82 |
|
|
Plcg2
|
0.000
|
|
8 |
117498291-117635142 bp (+)
|
117581707 |
Unknown (1;0)
|
2018-10-25
Diantha La Vine
|
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NLRP3 inflammasome: high response
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to CpG + IFNg
|
| 83 |
|
|
Prkcd
|
0.368
|
|
14 |
30595354-30626210 bp (-)
|
30610301 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;5)
|
2018-10-25
Diantha La Vine
|
DSS: sensitive day 10
DSS: sensitive day 7
|
| 84 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122582439 |
Unknown (1;0)
|
2018-10-25
Diantha La Vine
|
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 85 |
|
|
Lyn
|
0.000
|
|
4 |
3678115-3813122 bp (+)
|
3746768 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;6)
|
2018-10-25
Diantha La Vine
|
FACS B cells - decreased
FACS neutrophils - increased
|
| 86 |
|
|
Blnk
|
0.101
|
|
19 |
40928927-40994535 bp (-)
|
40952391 |
Unknown (2;0)
|
2018-10-25
Diantha La Vine
|
FACS B cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 87 |
|
|
Pik3ap1
|
0.000
|
|
19 |
41274218-41385070 bp (-)
|
41356683 |
Unknown
|
2018-10-25
Diantha La Vine
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 88 |
|
|
Atp11c
|
0.106
|
|
X |
60223290-60592698 bp (-)
|
60269987 |
Unknown
|
2018-10-25
Diantha La Vine
|
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
|
| 89 |
|
|
Cd79a
|
0.126
|
|
7 |
24897381-24902197 bp (+)
|
24899175 |
Unknown (2;0)
|
2018-10-25
Diantha La Vine
|
FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 90 |
|
|
Cd79b
|
0.030
|
|
11 |
106311341-106314762 bp (-)
|
106312441 |
Autosomal Recessive (11;178)
Autosomal Semidominant (2;28)
|
2018-10-25
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS NK cells - decreased
FACS T cells - increased
|
| 91 |
|
|
Fgf3
|
0.660
|
|
7 |
144838083-144844436 bp (+)
|
144840707 |
Autosomal Dominant (2;6)
Autosomal Recessive (1;3)
|
2018-10-25
Anne Murray
|
Body Weight - decreased
limbs/digits/tail phenotype
OVA-specific IgE after 2nd OVA/Alum - increased
|
| 92 |
|
|
Gck
|
1.000
|
|
11 |
5900820-5950081 bp (-)
|
5909150 |
Autosomal Dominant (1;5)
|
2018-10-25
Anne Murray
|
|
| 93 |
|
|
Tnfrsf13c
|
0.100
|
|
15 |
82221743-82224369 bp (-)
|
82224207 |
Autosomal Dominant (4;16)
|
2018-10-25
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
|
| 94 |
|
|
Mdm4
|
1.000
|
|
1 |
132959484-133030561 bp (-)
|
133012651 |
Autosomal Dominant (7;60)
|
2018-10-25
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
|
| 95 |
|
|
Ikzf1
|
0.833
|
|
11 |
11685003-11772926 bp (+)
|
11769448 |
Autosomal Dominant (16;118)
|
2018-10-25
Diantha La Vine
|
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 3 - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
|
| 96 |
|
|
Insr
|
0.938
|
|
8 |
3122061-3279617 bp (-)
|
3159475 |
Autosomal Dominant (2;16)
|
2018-10-25
Anne Murray
|
30 Min. Insulin - increased
Body Weight (Female) - decreased
DSS: sensitive day 7
|
| 97 |
|
|
Ikzf1
|
0.833
|
|
11 |
11685003-11772926 bp (+)
|
11768961 |
Autosomal Dominant (10;78)
|
2018-10-25
Bruce Beutler
|
Body Weight (BP) - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
|
| 98 |
|
|
Pparg
|
1.000
|
|
6 |
115360951-115490399 bp (+)
|
115451044 |
Autosomal Dominant (3;12)
|
2018-10-25
Anne Murray
|
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
growth/size
|
| 99 |
|
|
Ebf1
|
0.929
|
|
11 |
44617317-45008091 bp (+)
|
44972908 |
Autosomal Dominant (1;9)
|
2018-10-25
Diantha La Vine
|
FACS CD8+ T cells - increased
|
| 100 |
|
|
Tcf7l2
|
1.000
|
|
19 |
55741810-55933654 bp (+)
|
55931432 |
Autosomal Recessive (4;19)
|
2018-10-25
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
|
