| 1 |
 |
|
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
|
| 2 |
|
|
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
|
| 3 |
|
|
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
|
| 4 |
|
|
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
|
| 5 |
|
|
Fgfr4
|
0.000
|
|
13 |
55152640-55168759 bp (+)
|
55166251 |
Autosomal Semidominant (3;17)
|
2018-10-16
Diantha La Vine
|
Body Weight - decreased
Body Weight (DSS) - decreased
FACS B1a cells in B1 cells - decreased
|
| 6 |
|
|
Ptprc
|
0.261
|
|
1 |
138062861-138175708 bp (-)
|
138068401 |
Autosomal Recessive (48;482)
Autosomal Semidominant (7;48)
|
2018-10-05
Diantha La Vine
|
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
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+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK T cells - decreased
FACS T cells - decreased
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS macrophages - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS pDCs - decreased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
|
| 7 |
|
|
Msh6
|
1.000
|
|
17 |
87975050-87990883 bp (+)
|
87980223 |
Autosomal Recessive (2;24)
|
2018-09-24
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - decreased
|
| 8 |
|
|
Gk5
|
0.000
|
|
9 |
96119362-96184608 bp (+)
|
96150797 |
Autosomal Dominant (1;5)
Autosomal Recessive (5;20)
|
2018-09-24
Anne Murray
|
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
|
| 9 |
|
|
Entpd5
|
0.000
|
|
12 |
84373857-84409029 bp (-)
|
84382295 |
Autosomal Recessive (9;41)
Autosomal Semidominant (1;4)
|
2018-09-24
Anne Murray
|
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
growth/size
TLR signaling defect: hypersensitivity to PAM3CSK4
|
| 10 |
|
|
Itgb2
|
0.372
|
|
10 |
77530252-77565708 bp (+)
|
77561216 |
Autosomal Recessive (20;156)
|
2018-09-18
Anne Murray
|
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1b cells - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - decreased
NK cell response - decreased
NK killing - decreased
total IgE level - increased
|
| 11 |
|
|
Ighe
|
0.053
|
|
12 |
113271174-113273248 bp (-)
|
113271374 |
Autosomal Semidominant (3;13)
|
2018-09-14
Anne Murray
|
IgE response to a Cysteine Protease (Papain) - decreased
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
|
| 12 |
|
|
Fbxl3
|
0.283
|
|
14 |
103080239-103099566 bp (-)
|
103089418 |
Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
|
2018-08-30
Anne Murray
|
fasting hyperglycemia
|
| 13 |
|
|
Kitl
|
0.579
|
|
10 |
100015630-100100416 bp (+)
|
100076906 |
Unknown (2;0)
Autosomal Dominant (7;18)
|
2018-08-06
Anne Murray
|
Blood Pressure: DBP Average - increased
Blood Pressure: DBP Day 3 - increased
Blood Pressure: MBP Average - increased
Blood Pressure: MBP Day 2 - increased
Blood Pressure: MBP Day 3 - increased
Blood Pressure: SBP Average - increased
pigmentation
skin/coat/nails
|
| 14 |
|
|
Cd22
|
0.000
|
|
7 |
30865402-30880342 bp (-)
|
30877787 |
Unknown
|
2018-07-27
Diantha La Vine
|
FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 15 |
|
|
Klhl6
|
0.082
|
|
16 |
19946496-19983037 bp (-)
|
19957218 |
Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
|
2018-07-20
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
total IgE level - increased
|
| 16 |
|
|
Kbtbd2
|
0.000
|
|
6 |
56777524-56797813 bp (-)
|
56780389 |
Unknown (1;0)
Autosomal Recessive (4;30)
Autosomal Semidominant (1;7)
|
2018-07-20
Anne Murray
|
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS CD44+ CD8 T cells - increased
growth/size
liver/biliary system
|
| 17 |
|
|
Aicda
|
0.000
|
|
6 |
122553801-122564180 bp (+)
|
122561867 |
Autosomal Recessive (3;21)
Autosomal Semidominant (2;16)
|
2018-07-18
Anne Murray
|
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
|
| 18 |
|
|
Slc13a5
|
0.181
|
|
11 |
72241989-72267222 bp (-)
|
72253391 |
Autosomal Recessive (11;58)
|
2018-06-19
Anne Murray
|
Body Weight - decreased
Body Weight (BP Female) - decreased
Body Weight (BP) - decreased
Body Weight (Female) - decreased
|
| 19 |
|
|
Fnip1
|
0.680
|
|
11 |
54438199-54518235 bp (+)
|
54480685 |
Unknown
|
2018-06-15
Diantha La Vine
|
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
|
| 20 |
|
|
Vav1
|
0.256
|
|
17 |
57279100-57328031 bp (+)
|
57297122 |
Autosomal Semidominant (1;5)
|
2018-06-13
Anne Murray
|
FACS B1 cells - decreased
|
| 21 |
|
|
Itgb2
|
0.372
|
|
10 |
77530252-77565708 bp (+)
|
77559681 |
Autosomal Recessive (2;21)
|
2018-06-13
Anne Murray
|
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
|
| 22 |
|
|
Lepr
|
0.000
|
|
4 |
101717404-101815352 bp (+)
|
101765152 |
Autosomal Recessive (6;46)
Autosomal Semidominant (1;3)
|
2018-05-22
Anne Murray
|
Body Weight - increased
Body Weight (Male) - increased
growth/size
NK cell response - decreased
NK killing - decreased
TLR signaling defect: hyposensitivity to CpG + IFNg
total IgE level - increased
|
| 23 |
|
|
Inpp5d
|
0.914
|
|
1 |
87620312-87720507 bp (+)
|
87697546 |
Autosomal Dominant (3;10)
Autosomal Semidominant (5;25)
|
2018-05-10
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD4 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
|
| 24 |
|
|
Myo6
|
0.646
|
|
9 |
80165031-80311729 bp (+)
|
80288217 |
Autosomal Recessive (4;15)
|
2018-04-25
Anne Murray
|
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
impaired response to dsDNA- type I IFN production by macrophages
|
| 25 |
|
|
Lepr
|
0.000
|
|
4 |
101717404-101815352 bp (+)
|
101772959 |
Unknown
|
2018-04-06
Diantha La Vine
|
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
|
| 26 |
|
|
Ltbr
|
0.117
|
|
6 |
125306571-125313885 bp (-)
|
125312794 |
Autosomal Dominant (1;1)
Autosomal Recessive (1;5)
Autosomal Semidominant (1;2)
|
2018-04-02
Diantha La Vine
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 27 |
|
|
Prkdc
|
0.976
|
|
16 |
15637866-15842235 bp (+)
|
15759605 |
Autosomal Recessive (2;11)
|
2018-03-28
Diantha La Vine
|
FACS effector memory CD4 T cells in CD4 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 28 |
|
|
Hr
|
0.000
|
|
14 |
70552212-70573548 bp (+)
|
70560065 |
Unknown
|
2018-03-02
Diantha La Vine
|
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
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 cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
|
| 29 |
|
|
Hr
|
0.000
|
|
14 |
70552212-70573548 bp (+)
|
70571448 |
Autosomal Recessive (1;4)
|
2018-03-02
Diantha La Vine
|
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
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 cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
|
| 30 |
|
|
Tg
|
0.182
|
|
15 |
66670753-66850721 bp (+)
|
66671396 |
Unknown (1;0)
Autosomal Recessive (17;89)
Autosomal Semidominant (1;5)
|
2018-01-15
Diantha La Vine
|
Body Weight - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
fasting hyperglycemia
fasting hyperglycemia (female)
|
| 31 |
|
|
Oca2
|
0.236
|
|
7 |
56239760-56536518 bp (+)
|
56324661 |
Unknown
|
2018-01-12
Diantha La Vine
|
pigmentation
skin/coat/nails
|
| 32 |
 |
|
Muc2
|
0.073
|
|
7 |
141690340-141754693 bp (+)
|
141699460 |
Unknown
|
2017-09-13
Diantha La Vine
|
DSS: sensitive day 7
immune system
|
| 33 |
|
|
Map3k8
|
0.000
|
|
18 |
4331327-4353015 bp (-)
|
4333965 |
Unknown (1;0)
Autosomal Dominant (1;3)
Autosomal Recessive (4;19)
Autosomal Semidominant (4;16)
|
2017-09-11
Diantha La Vine
|
hyposensitivity to TLR CpGODN + IFNg
IgE response to a Cysteine Protease (Papain) - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
|
| 34 |
|
|
Card11
|
0.000
|
|
5 |
140872990-141000582 bp (-)
|
140876495 |
Unknown
|
2017-09-08
Diantha La Vine
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 35 |
|
|
Dock8
|
0.178
|
|
19 |
24999529-25202432 bp (+)
|
25184941 |
Autosomal Recessive (7;30)
|
2017-05-17
Anne Murray
|
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 36 |
|
|
Slx4
|
1.000
|
|
16 |
3979105-4003770 bp (-)
|
3990910 |
Autosomal Recessive (5;26)
|
2017-05-12
Anne Murray
|
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
growth/size
|
| 37 |
|
|
Ciita
|
0.186
|
|
16 |
10480059-10528418 bp (+)
|
10513288 |
Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
|
2017-05-12
Anne Murray
|
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
| 38 |
|
|
Clock
|
0.554
|
|
5 |
76209868-76304792 bp (-)
|
76229554 |
Autosomal Recessive (2;7)
Autosomal Semidominant (1;6)
|
2017-05-10
Katherine Timer
|
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
|
| 39 |
|
|
Map3k14
|
0.500
|
|
11 |
103219762-103267472 bp (-)
|
103249558 |
Unknown (1;0)
|
2017-04-06
Katherine Timer
|
FACS B cells - decreased
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 40 |
|
|
Slc6a6
|
0.206
|
|
6 |
91684053-91759066 bp (+)
|
91723471 |
Autosomal Recessive (3;40)
Autosomal Semidominant (1;4)
|
2017-03-31
Anne Murray
|
FACS naive CD4 T cells in CD4 T cells - decreased
vision/eye
|
| 41 |
|
|
Cd14
|
0.103
|
|
18 |
36725074-36726736 bp (-)
|
36726171 |
Unknown (1;0)
|
2017-03-27
Katherine Timer
|
immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
|
| 42 |
|
|
Myo15
|
0.000
|
|
11 |
60469339-60528369 bp (+)
|
60487425 |
Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
|
2017-03-03
Anne Murray
|
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
| 43 |
|
|
Impdh1
|
0.307
|
|
6 |
29200434-29216364 bp (-)
|
29204632 |
Autosomal Recessive (7;43)
|
2017-02-23
Anne Murray
|
Body Weight (Male) - increased
fasting hypoglycemia (female)
Fasting Insulin - increased
vision/eye
|
| 44 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66841142 |
Unknown (1;0)
|
2016-12-09
Katherine Timer
|
immune system
TLR signaling defect: TNF production by macrophages
|
| 45 |
|
|
Hps5
|
0.253
|
|
7 |
46760466-46796064 bp (-)
|
46769351 |
Autosomal Recessive (1;2)
|
2016-12-08
Anne Murray
|
pigmentation
skin/coat/nails
|
| 46 |
|
|
Tnfsf13b
|
0.208
|
|
8 |
10006467-10039072 bp (+)
|
10031661 |
Autosomal Recessive (6;46)
Autosomal Semidominant (8;88)
|
2016-12-08
Katherine Timer
|
FACS B cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - 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
|
| 47 |
|
|
Prkcq
|
0.000
|
|
2 |
11172108-11301222 bp (+)
|
11226986 |
Unknown
|
2016-11-08
Anne Murray
|
|
| 48 |
|
|
Ticam1
|
0.000
|
|
17 |
56269319-56276786 bp (-)
|
56276693 |
Unknown (2;0)
|
2016-10-13
Anne Murray
|
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
|
| 49 |
|
|
Rorc
|
0.622
|
|
3 |
94372794-94398276 bp (+)
|
94387193 |
Autosomal Recessive (18;118)
|
2016-08-08
Anne Murray
|
FACS B:T cells - increased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 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+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ 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 - increased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 50 |
|
|
Tmprss6
|
0.138
|
|
15 |
78439667-78468634 bp (-)
|
78464552 |
Unknown
|
2016-05-13
Peter Jurek
|
embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
|
| 51 |
|
|
Tgm3
|
0.088
|
|
2 |
130012349-130050399 bp (+)
|
130024585 |
Unknown (1;0)
|
2016-05-13
Stephen Lyon
|
immune system
RVFV susceptibility
skin/coat/nails
|
| 52 |
|
|
Naip5
|
0.071
|
|
13 |
100211739-100246323 bp (-)
|
100221903 |
Autosomal Recessive (2;9)
|
2016-05-13
Anne Murray
|
Nlrc4 inflammasome: low response
|
| 53 |
|
|
Cd4
|
0.000
|
|
6 |
124864692-124888221 bp (-)
|
124867746 |
Unknown (3;0)
|
2016-05-13
Bruce Beutler
|
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 54 |
|
|
Tlr9
|
0.111
|
|
9 |
106222598-106226883 bp (+)
|
106226593 |
Unknown (2;0)
|
2016-05-13
Peter Jurek
|
immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
|
| 55 |
|
|
Bicc1
|
1.000
|
|
10 |
70922832-71159700 bp (-)
|
71027954 |
Unknown
|
2016-05-13
Stephen Lyon
|
homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
|
