| 1 |
 |
|
Atp11c
|
0.106
|
|
X |
60223290-60592698 bp (-)
|
36608577 |
Unknown
|
2016-05-13
Stephen Lyon
|
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
|
| 2 |
|
|
Atp11c
|
0.106
|
|
X |
60223290-60592698 bp (-)
|
36608577 |
Unknown
|
2016-05-13
Stephen Lyon
|
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
|
| 3 |
|
|
Dock8
|
0.178
|
|
19 |
24999529-25202432 bp (+)
|
25127711 |
Unknown
|
2016-05-13
Peter Jurek
|
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
|
| 4 |
|
|
Muc2
|
0.073
|
|
7 |
141690340-141754693 bp (+)
|
141693356 |
Unknown
|
2017-09-13
Diantha La Vine
|
immune system
|
| 5 |
|
|
Muc2
|
0.073
|
|
7 |
141690340-141754693 bp (+)
|
|
Unknown
|
2018-04-25
Anne Murray
|
inflammatory bowel disease phenotype
|
| 6 |
|
|
Tnfaip3
|
0.000
|
|
10 |
19000910-19015657 bp (-)
|
19010758 |
Unknown
|
2017-04-06
Katherine Timer
|
immune system
|
| 7 |
|
|
Ptprc
|
0.243
|
|
1 |
138062861-138175708 bp (-)
|
138083790 |
Unknown
|
2018-10-05
Diantha La Vine
|
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
|
| 8 |
|
|
Cd4
|
0.000
|
|
6 |
124864692-124888221 bp (-)
|
124866684 |
Unknown
|
2016-05-13
Peter Jurek
|
FACS CD4+ T cells - decreased
immune system
|
| 9 |
|
|
Zap70
|
0.296
|
|
1 |
36761798-36782818 bp (+)
|
36781149 |
Unknown
|
2017-08-08
Diantha La Vine
|
CD8 response - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
|
| 10 |
|
|
Zap70
|
0.296
|
|
1 |
36761798-36782818 bp (+)
|
36779704 |
Unknown
|
2017-08-08
Diantha La Vine
|
CD8 response - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
|
| 11 |
|
|
Dock8
|
0.178
|
|
19 |
24999529-25202432 bp (+)
|
25183609 |
Unknown
|
2016-05-13
Peter Jurek
|
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
|
| 12 |
|
|
Tap1
|
0.000
|
|
17 |
34187553-34197225 bp (+)
|
34194940 |
Unknown
|
2017-09-11
Diantha La Vine
|
FACS CD8+ T cells - decreased
hematopoietic system
immune system
|
| 13 |
|
|
Rc3h1
|
0.299
|
|
1 |
160906418-160974978 bp (+)
|
160940830 |
Unknown
|
2016-05-13
Peter Jurek
|
autoimmunity
immune system
|
| 14 |
|
|
Cd4
|
0.000
|
|
6 |
124864692-124888221 bp (-)
|
124872977 |
Unknown
|
2016-05-13
Peter Jurek
|
FACS CD4+ T cells - decreased
immune system
|
| 15 |
|
|
Cd4
|
0.000
|
|
6 |
124864692-124888221 bp (-)
|
124873140 |
Unknown
|
2016-05-13
Peter Jurek
|
FACS CD4+ T cells - decreased
immune system
|
| 16 |
|
|
Hnrnpll
|
0.558
|
|
17 |
80029487-80062334 bp (-)
|
80053571 |
Unknown
|
2016-05-13
Bruce Beutler
|
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
|
| 17 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122595005 |
Unknown
|
2016-05-13
Peter Jurek
|
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 18 |
|
|
Card11
|
0.000
|
|
5 |
140872990-141000582 bp (-)
|
140897997 |
Unknown
|
2017-09-08
Diantha La Vine
|
CD8 response - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
|
| 19 |
|
|
Muc2
|
0.073
|
|
7 |
141690340-141754693 bp (+)
|
141699460 |
Unknown
|
2017-09-13
Diantha La Vine
|
DSS: sensitive day 7
immune system
|
| 20 |
|
|
Nfkb2
|
0.693
|
|
19 |
46304737-46312090 bp (+)
|
|
Unknown
|
2017-03-28
Katherine Timer
|
FACS B cells - decreased
immune system
|
| 21 |
 |
|
Unc93b1
|
0.000
|
|
19 |
3935186-3949340 bp (+)
|
3944168 |
Unknown (2;0)
|
2018-03-08
Diantha La Vine
|
DSS: sensitive day 7
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
|
| 22 |
|
|
Rorb
|
0.000
|
|
19 |
18930605-19111196 bp (-)
|
18983351 |
Unknown
|
2018-06-12
Diantha La Vine
|
behavior/neurological
|
| 23 |
|
|
Lyst
|
0.466
|
|
13 |
13590397-13778803 bp (+)
|
13708212 |
Autosomal Recessive (5;26)
|
2018-08-02
Diantha La Vine
|
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS pDCs - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
skin/coat/nails
|
| 24 |
|
|
Sppl2a
|
0.368
|
|
2 |
126890391-126933235 bp (-)
|
126923594 |
Unknown
|
2016-12-08
Katherine Timer
|
|
| 25 |
|
|
Sppl2a
|
0.368
|
|
2 |
126890391-126933235 bp (-)
|
126920313 |
Autosomal Recessive (5;44)
Autosomal Semidominant (1;4)
|
2016-10-28
Anne Murray
|
FACS central memory CD8 T cells in CD8 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
|
| 26 |
|
|
Edaradd
|
0.309
|
|
13 |
12472632-12520438 bp (-)
|
12478497 |
Unknown
|
2016-05-13
Stephen Lyon
|
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
|
| 27 |
|
|
Edar
|
0.427
|
|
10 |
58600789-58675654 bp (-)
|
58603163 |
Unknown
|
2018-04-24
Diantha La Vine
|
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
|
| 28 |
|
|
Tomt
|
|
|
7 |
101898370-101906359 bp (-)
|
101902129 |
Unknown
|
2016-05-13
Stephen Lyon
|
behavior/neurological
hearing/vestibular/ear
nervous system
|
| 29 |
|
|
Itgax
|
0.080
|
|
7 |
128129547-128150657 bp (+)
|
128148572 |
Autosomal Recessive (1;7)
Autosomal Semidominant (2;20)
|
2017-05-17
Katherine Timer
|
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - decreased
FACS pDCs - increased
|
| 30 |
|
|
Cd8a
|
0.040
|
|
6 |
71373427-71379173 bp (+)
|
71373728 |
Autosomal Dominant (1;4)
Autosomal Recessive (6;45)
Autosomal Semidominant (6;64)
|
2017-05-12
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 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 CD8 T cells in CD8 T cells - increased
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
|
| 31 |
|
|
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
|
| 32 |
|
|
Cd247
|
0.069
|
|
1 |
165788681-165877277 bp (+)
|
165855214 |
Unknown
|
2016-05-13
Stephen Lyon
|
hematopoietic competition - disadvantage
immune system
|
| 33 |
|
|
Cd36
|
0.165
|
|
5 |
17781690-17888801 bp (-)
|
17813088 |
Autosomal Recessive (1;5)
|
2017-10-05
External Program
|
|
| 34 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122582449 |
Autosomal Semidominant (1;6)
|
2017-05-12
Anne Murray
|
post-MCMV FACS B1b cells in B1 cells - increased
|
| 35 |
|
|
Casp8
|
1.000
|
|
1 |
58795374-58847503 bp (+)
|
58844770 |
Autosomal Recessive (9;57)
|
2018-09-24
Anne Murray
|
FACS B1 cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
|
| 36 |
|
|
Mlh1
|
0.000
|
|
9 |
111228228-111271791 bp (-)
|
111271410 |
Autosomal Recessive (1;6)
|
2018-08-02
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 37 |
|
|
Mlh1
|
0.000
|
|
9 |
111228228-111271791 bp (-)
|
111271523 |
Autosomal Recessive (2;11)
|
2018-08-02
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
|
| 38 |
|
|
Mlh1
|
0.000
|
|
9 |
111228228-111271791 bp (-)
|
111229838 |
Autosomal Recessive (8;36)
Autosomal Semidominant (1;4)
|
2018-08-02
Anne Murray
|
30 min GTT hyperglycemic (male)
FACS B:T cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
|
| 39 |
|
|
Hr
|
0.000
|
|
14 |
70552212-70573548 bp (+)
|
70567833 |
Autosomal Recessive (5;31)
|
2018-09-21
Anne Murray
|
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
|
| 40 |
|
|
Col4a4
|
0.289
|
|
1 |
82448423-82586849 bp (-)
|
82535740 |
Unknown (1;0)
|
2016-05-13
Stephen Lyon
|
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
|
| 41 |
|
|
Tnfsf13b
|
0.208
|
|
8 |
10006467-10039072 bp (+)
|
10031534 |
Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
|
2016-12-08
Katherine Timer
|
FACS B:T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 42 |
|
|
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
|
| 43 |
|
|
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
|
| 44 |
|
|
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
|
| 45 |
|
|
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
|
| 46 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11643895 |
Autosomal Semidominant (1;5)
|
2018-10-24
Anne Murray
|
Blood Pressure: HR Average - increased
|
| 47 |
|
|
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
|
| 48 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11555448 |
Autosomal Dominant (2;8)
|
2018-10-24
Anne Murray
|
Blood Pressure: HR Average - decreased
|
| 49 |
|
|
Bicc1
|
1.000
|
|
10 |
70922832-71159700 bp (-)
|
71027954 |
Unknown
|
2016-05-13
Stephen Lyon
|
homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
|
| 50 |
|
|
Fcer2a
|
0.000
|
|
8 |
3681737-3694175 bp (-)
|
3688796 |
Autosomal Recessive (4;25)
|
2018-01-28
Bruce Beutler
|
FACS CD11c+ DCs - increased
|
| 51 |
|
|
Tnfrsf9
|
0.108
|
|
4 |
150914562-150946102 bp (+)
|
150929874 |
Autosomal Recessive (6;29)
|
2018-09-07
Anne Murray
|
FACS B cells - increased
FACS B:T cells - increased
FACS CD8+ T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
|
| 52 |
|
|
Tlr9
|
0.111
|
|
9 |
106222598-106226883 bp (+)
|
106224647 |
Autosomal Semidominant (2;16)
|
2016-05-13
Anne Murray
|
hyposensitivity to TLR CpGODN + IFNg
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
|
| 53 |
|
|
Eif2ak4
|
0.000
|
|
2 |
118388618-118475234 bp (+)
|
118400653 |
Unknown (2;0)
|
2016-05-13
Stephen Lyon
|
adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
|
| 54 |
|
|
Il12a
|
0.000
|
|
3 |
68690644-68698547 bp (+)
|
68697987 |
Autosomal Recessive (1;5)
|
2018-12-20
Anne Murray
|
MCMV proliferation in macrophages - increased
MCMV susceptibility
|
| 55 |
|
|
Traf3
|
1.000
|
|
12 |
111166370-111267153 bp (+)
|
111262036 |
Autosomal Recessive (6;35)
|
2017-03-29
Katherine Timer
|
FACS B1a cells in B1 cells - decreased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS IgM MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
|
| 56 |
|
|
Grhl1
|
0.000
|
|
12 |
24572283-24617391 bp (+)
|
24578027 |
Unknown
|
2016-05-13
Stephen Lyon
|
Body Weight - decreased
growth/size
skin/coat/nails
|
| 57 |
|
|
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
|
| 58 |
|
|
Gk5
|
0.000
|
|
9 |
96119362-96184608 bp (+)
|
96129096 |
Autosomal Recessive (4;22)
Autosomal Semidominant (1;4)
|
2018-09-24
Anne Murray
|
DSS: sensitive day 7
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
skin/coat/nails
|
| 59 |
|
|
Frem1
|
0.611
|
|
4 |
82897920-83052339 bp (-)
|
82983060 |
Unknown
|
2016-05-13
Stephen Lyon
|
limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
|
| 60 |
|
|
Mlph
|
0.121
|
|
1 |
90915085-90951142 bp (+)
|
90928122 |
Autosomal Recessive (1;4)
|
2016-12-07
Anne Murray
|
pigmentation
skin/coat/nails
|
| 61 |
|
|
Ptprc
|
0.243
|
|
1 |
138062861-138175708 bp (-)
|
138137493 |
Unknown
|
2018-10-05
Diantha La Vine
|
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
|
| 62 |
|
|
Ap3b1
|
0.470
|
|
13 |
94358960-94566317 bp (+)
|
94528257 |
Autosomal Recessive (1;4)
|
2018-02-22
Anne Murray
|
pigmentation
skin/coat/nails
|
| 63 |
|
|
Aicda
|
0.000
|
|
6 |
122553801-122564180 bp (+)
|
122561185 |
Autosomal Dominant (2;8)
Autosomal Recessive (7;40)
Autosomal Semidominant (1;9)
|
2018-07-18
Anne Murray
|
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
OVA-specific IgE - decreased
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
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
|
| 64 |
|
|
Rho
|
0.155
|
|
6 |
115931748-115940036 bp (+)
|
115935131 |
Unknown
|
2018-11-01
Diantha La Vine
|
vision/eye
|
| 65 |
|
|
Klf5
|
1.000
|
|
14 |
99298691-99315036 bp (+)
|
99302230 |
Autosomal Semidominant (2;13)
|
2018-08-08
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
|
| 66 |
|
|
Rac2
|
0.110
|
|
15 |
78559167-78572783 bp (-)
|
78565945 |
Autosomal Dominant (2;3)
Autosomal Recessive (5;12)
Autosomal Semidominant (2;10)
|
2017-08-09
Diantha La Vine
|
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS CD8+ T cells - decreased
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
|
| 67 |
|
|
Mc4r
|
0.062
|
|
18 |
66857715-66860472 bp (-)
|
66859488 |
Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
|
2018-07-25
Diantha La Vine
|
30 Min. Insulin - increased
Body Weight - increased
Fasting Insulin - increased
growth/size
Total Cholesterol - increased
|
| 68 |
|
|
Rac2
|
0.110
|
|
15 |
78559167-78572783 bp (-)
|
78564968 |
Autosomal Recessive (1;6)
|
2017-12-19
Anne Murray
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 69 |
|
|
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
|
| 70 |
|
|
Hps3
|
0.182
|
|
3 |
19995945-20035315 bp (-)
|
20030796 |
Autosomal Semidominant (1;1)
|
2016-05-13
Anne Murray
|
pigmentation
skin/coat/nails
|
| 71 |
|
|
Cd40
|
0.000
|
|
2 |
165055627-165072948 bp (+)
|
165062301 |
Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
|
2017-06-23
Katherine Timer
|
OVA-specific IgE - increased
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
|
| 72 |
|
|
Ltbr
|
0.117
|
|
6 |
125306571-125313885 bp (-)
|
125312770 |
Autosomal Recessive (3;20)
Autosomal Semidominant (1;5)
|
2018-04-02
Diantha La Vine
|
FACS NK T cells - increased
fasting hyperglycemia (female)
growth/size
NK cell response - decreased
NK killing - decreased
|
| 73 |
|
|
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
|
| 74 |
|
|
Pah
|
0.407
|
|
10 |
87521795-87584136 bp (+)
|
87570226 |
Unknown
|
2016-05-13
Stephen Lyon
|
behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
|
| 75 |
|
|
Atp7a
|
0.425
|
|
X |
106027276-106124926 bp (+)
|
106088491 |
Unknown
|
2016-05-13
Stephen Lyon
|
pigmentation
skin/coat/nails
|
| 76 |
|
|
Malt1
|
0.167
|
|
18 |
65430962-65478823 bp (+)
|
65462915 |
Autosomal Recessive (3;10)
Autosomal Semidominant (1;3)
|
2016-05-13
Anne Murray
|
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
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
|
| 77 |
|
|
Adamts20
|
0.239
|
|
15 |
94270163-94465418 bp (-)
|
94341087 |
Unknown (1;0)
|
2018-10-05
Diantha La Vine
|
pigmentation
skin/coat/nails
|
| 78 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66839254 |
Autosomal Recessive (3;11)
|
2016-12-09
Katherine Timer
|
IgE response to a Cysteine Protease (Papain) - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
|
| 79 |
|
|
Ap3b1
|
0.470
|
|
13 |
94358960-94566317 bp (+)
|
94451087 |
Unknown (2;0)
|
2018-01-15
Diantha La Vine
|
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
|
| 80 |
|
|
Nfkbid
|
|
|
7 |
30421732-30428746 bp (+)
|
30425411 |
Unknown (2;0)
|
2017-03-28
Katherine Timer
|
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
|
| 81 |
|
|
Apbb2
|
0.000
|
|
5 |
66298703-66618784 bp (-)
|
66400255 |
Autosomal Recessive (1;3)
|
2018-10-04
External Program
|
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
|
| 82 |
|
|
Dsg4
|
0.608
|
|
18 |
20436175-20471821 bp (+)
|
20451862 |
Autosomal Recessive (1;5)
|
2018-11-29
Anne Murray
|
skin/coat/nails
|
| 83 |
|
|
Lepr
|
0.000
|
|
4 |
101717404-101815352 bp (+)
|
101764872 |
Unknown
|
2018-04-06
Diantha La Vine
|
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
|
| 84 |
|
|
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
|
| 85 |
|
|
Tyrp1
|
0.230
|
|
4 |
80834123-80851719 bp (+)
|
80840806 |
Autosomal Recessive (1;7)
|
2016-09-15
Katherine Timer
|
pigmentation
skin/coat/nails
|
| 86 |
|
|
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
|
| 87 |
|
|
Tyrp1
|
0.230
|
|
4 |
80834123-80851719 bp (+)
|
80844868 |
Unknown (2;0)
Autosomal Recessive (2;6)
|
2016-12-07
Anne Murray
|
MCMV resistance
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
pigmentation
skin/coat/nails
|
| 88 |
|
|
Ptpn6
|
0.477
|
|
6 |
124720707-124738714 bp (-)
|
124728419 |
Autosomal Recessive (6;44)
Autosomal Semidominant (2;9)
|
2018-04-06
Diantha La Vine
|
FACS B cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD8 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
|
| 89 |
|
|
Gys2
|
0.494
|
|
6 |
142422613-142473109 bp (-)
|
142456333 |
Autosomal Recessive (1;4)
|
2018-08-29
Anne Murray
|
30 min GTT hyperglycemic
|
| 90 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34294170 |
Autosomal Recessive (3;32)
|
2018-11-29
Diantha La Vine
|
OVA-specific IgE - increased
|
| 91 |
|
|
Slc45a2
|
0.154
|
|
15 |
11000721-11029233 bp (+)
|
11022172 |
Unknown
|
2018-08-01
Diantha La Vine
|
pigmentation
skin/coat/nails
|
| 92 |
|
|
Cd8b1
|
0.050
|
|
6 |
71322788-71337494 bp (+)
|
71334101 |
Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
|
2016-12-30
Katherine Timer
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
T-dependent humoral response defect- increased antibody response to rSFV
|
| 93 |
|
|
Mmp14
|
0.891
|
|
14 |
54431612-54445364 bp (+)
|
54439999 |
Unknown
|
2016-05-13
Stephen Lyon
|
craniofacial
growth/size
lethality-embryonic/perinatal
life span-post-weaning/aging
reproductive system
vision/eye
|
| 94 |
|
|
Kit
|
0.852
|
|
5 |
75574916-75656722 bp (+)
|
75645875 |
Unknown
|
2016-05-13
Stephen Lyon
|
hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
|
| 95 |
|
|
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
|
| 96 |
|
|
Prkcq
|
0.000
|
|
2 |
11172108-11301222 bp (+)
|
11283849 |
Autosomal Recessive (1;6)
|
2018-01-18
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
| 97 |
|
|
Prkcq
|
0.000
|
|
2 |
11172108-11301222 bp (+)
|
11226986 |
Unknown
|
2016-11-08
Anne Murray
|
|
| 98 |
|
|
Zeb1
|
0.774
|
|
18 |
5591860-5775467 bp (+)
|
5770554 |
Unknown (3;0)
|
2016-05-13
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
| 99 |
|
|
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
|
| 100 |
|
|
Mc4r
|
0.062
|
|
18 |
66857715-66860472 bp (-)
|
66859180 |
Autosomal Semidominant (4;25)
|
2018-07-25
Anne Murray
|
Body Weight - increased
Body Weight (BP Male) - increased
Body Weight (BP) - increased
Body Weight (Male) - increased
|
