Phenotypic Mutations

706 mutations affecting 339 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 706] per page Full List
 
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1 APN 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 UTSW 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
3 UTSW Sppl2a 0.368 2 126890391-126933235 bp (-) 126923594 Unknown 2016-12-08
Katherine Timer
4 UTSW 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
5 UTSW Edaradd 0.309 13 12472632-12520438 bp (-) 12478497 Unknown 2016-05-13
Stephen Lyon
 craniofacial
 limbs/digits/tail phenotype
 skin/coat/nails
6 UTSW Edar 0.427 10 58600789-58675654 bp (-) 58603163 Unknown 2018-04-24
Diantha La Vine
 craniofacial
 limbs/digits/tail phenotype
 skin/coat/nails
7 UTSW 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
8 UTSW 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
9 UTSW 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
10 UTSW Cd247 0.069 1 165788681-165877277 bp (+) 165855214 Unknown 2016-05-13
Stephen Lyon
 hematopoietic competition - disadvantage
 immune system
11 UTSW Cd36 0.165 5 17781690-17888801 bp (-) 17813088 Autosomal Recessive (1;5) 2017-10-05
External Program
12 UTSW 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
13 APN 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
14 UTSW 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
15 UTSW 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
16 UTSW 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
17 UTSW 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
18 UTSW 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
19 UTSW Col4a4 0.289 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
 digestive/alimentary
 hearing/vestibular/ear
 renal/urinary system
20 UTSW 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
21 UTSW 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
22 UTSW 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
23 UTSW 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
24 UTSW 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
25 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11643895 Autosomal Semidominant (1;5) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - increased
26 UTSW 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
27 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (2;8) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - decreased
28 UTSW Fcer2a 0.000 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 2018-01-28
Bruce Beutler
 FACS CD11c+ DCs - increased
29 UTSW 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
30 UTSW 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
31 UTSW 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
32 UTSW Il12a 0.000 3 68690644-68698547 bp (+) 68697987 Autosomal Recessive (1;5) 2018-12-20
Anne Murray
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
33 UTSW 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
34 UTSW 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
35 UTSW 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
36 UTSW 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
37 UTSW 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
38 UTSW Rho 0.155 6 115931748-115940036 bp (+) 115935131 Unknown 2018-11-01
Diantha La Vine
 vision/eye
39 UTSW 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
40 UTSW 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
41 UTSW 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
42 UTSW 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
43 UTSW 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
44 UTSW 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
45 UTSW 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
46 UTSW 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
47 UTSW 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
48 UTSW Adamts20 0.239 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
49 UTSW 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
50 UTSW 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
51 UTSW 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)
52 UTSW 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
53 UTSW Tyrp1 0.230 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 2016-09-15
Katherine Timer
 pigmentation
 skin/coat/nails
54 UTSW 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 UTSW 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
56 UTSW Gys2 0.494 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (1;4) 2018-08-29
Anne Murray
 30 min GTT hyperglycemic
57 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (3;32) 2018-11-29
Diantha La Vine
 OVA-specific IgE - increased
58 APN 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
59 UTSW 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
60 UTSW Kit 0.852 5 75574916-75656722 bp (+) 75645875 Unknown 2016-05-13
Stephen Lyon
 hematopoietic system
 immune system
 pigmentation
 reproductive system
 skin/coat/nails
61 UTSW 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
62 UTSW 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
63 UTSW Prkcq 0.000 2 11172108-11301222 bp (+) 11226986 Unknown 2016-11-08
Anne Murray
64 UTSW 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
65 UTSW 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
66 UTSW 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
67 UTSW Dclre1c 0.655 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
 Autosomal Recessive (4;19)

 Autosomal Semidominant (3;12)
2018-06-15
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T MFI - 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 naive CD8 T cells in CD8 T cells - decreased
68 UTSW Oca2 0.236 7 56239760-56536518 bp (+) 56316405 Unknown 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
69 UTSW 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
70 UTSW 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
71 UTSW Rorc 0.622 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (3;18)
 Autosomal Semidominant (1;5)
2016-12-07
Anne Murray
 Body Weight (Male) - increased
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS NK cells - increased
72 UTSW Mc4r 0.062 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) 2018-07-25
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 growth/size
73 UTSW Jak3 0.400 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (3;14) 2016-05-13
Peter Jurek
 cellular phenotype
 FACS B:T cells - increased
 FACS B1b cells - decreased
 FACS macrophages - decreased
 hematopoietic system
74 UTSW Ctss 0.154 3 95526786-95556403 bp (+) 95545384 Autosomal Recessive (2;11) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
75 UTSW Themis 0.153 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (19;252) 2018-05-15
Anne Murray
 Blood Pressure: DBP Day 1 - increased
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B:T cells - increased
 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 CD44+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
76 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15702157 Unknown 2018-06-22
Diantha La Vine
 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 UTSW Ctla4 1.000 1 60887000-60915832 bp (+) 60912491 Autosomal Dominant (2;8)
 Autosomal Recessive (3;44)

 Autosomal Semidominant (5;27)
2018-09-07
Anne Murray
 Body Weight (Female) - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - 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 CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
78 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)
2017-09-15
Anne Murray
 30 Min. Insulin (Male) - decreased
 FACS IgD MFI - decreased
79 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560779 Unknown 2018-01-31
Anne Murray
80 UTSW Asf1b 0.000 8 83955507-83970197 bp (+) 83955911 Autosomal Recessive (3;14) 2018-09-21
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 OVA-specific IgE - increased
 total IgE level - increased
81 UTSW 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 UTSW Bbs9 0.557 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
 Autosomal Recessive (12;125)
2018-08-01
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
83 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 2018-10-04
External Program
 DSS: sensitive day 7
84 UTSW Pde6d 0.212 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
 Autosomal Recessive (3;16)
2018-09-05
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
85 UTSW 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
86 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) 2016-05-13
Anne Murray
 TLR signaling defect: TNF production by macrophages
87 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106226465 Unknown (2;0) 2016-05-13
Peter Jurek
 immune system
 MCMV susceptibility
 TLR signaling defect: TNF production by macrophages
88 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106224152 Unknown (3;0) 2016-05-13
Peter Jurek
 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
89 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106224689 Unknown (2;0) 2016-05-13
Peter Jurek
 immune system
 MCMV susceptibility
 TLR signaling defect: TNF production by macrophages
90 UTSW 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
91 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) 2016-11-10
Anne Murray
 immune system
 TLR signaling defect: TNF production by macrophages
92 UTSW 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
93 UTSW Galc 0.000 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2018-10-02
Diantha La Vine
 Body Weight - decreased
94 UTSW Ebf1 0.929 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (1;9) 2018-10-25
Diantha La Vine
 FACS CD8+ T cells - increased
95 UTSW 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
96 UTSW 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
97 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (5;26)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (6;32)
2016-09-16
Katherine Timer
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS neutrophils - decreased
 MCMV susceptibility
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 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
98 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
 Autosomal Recessive (7;41)

 Autosomal Semidominant (4;23)
2017-08-03
Diantha La Vine
 FACS B cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS IgD MFI - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B1a cells in B1 cells - increased
 post-MCMV FACS B1b cells in B1 cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM MFI - increased
 post-MCMV FACS IgM+ B cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
99 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
 Autosomal Semidominant (2;13)
2016-12-09
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
100 UTSW Neurod1 0.736 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (4;17) 2018-02-02
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
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