Phenotypic Mutations

713 mutations affecting 342 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 713] per page Full List
 
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1 UTSW
has video
Tomt 7 101898370-101906359 bp (-) 101902129 Unknown 2016-05-13
Stephen Lyon
 behavior/neurological
 hearing/vestibular/ear
 nervous system
2 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
3 UTSW Yipf6 X 98936316-98949017 bp (+) 98940782 Unknown (1;0) 2016-12-09
Anne Murray
 DSS: sensitive day 7
 immune system
4 UTSW Ikbkg X 74393290-74453854 bp (+) 74437222 Unknown (2;0) 2017-03-28
Katherine Timer
 immune system
 MCMV susceptibility
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: TNF production by macrophages
5 UTSW Tlr13 X 106143204-106160493 bp (+) 106157377 Unknown 2016-05-13
Anne Murray
 normal phenotype
6 UTSW Cd40lg X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
7 UTSW Med30 15 52712408-52730564 bp (+) 52712639 Unknown (1;0) 2016-05-13
Stephen Lyon
 cardiovascular system
 FACS NK cells - decreased
 hematopoietic system
 life span-post-weaning/aging
8 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
9 UTSW
has photo
Rorb 0.000 19 18930605-19111196 bp (-) 18983351 Unknown 2018-06-12
Diantha La Vine
 behavior/neurological
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 UTSW Fcer2a 0.000 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 2018-01-28
Bruce Beutler
 FACS CD11c+ DCs - increased
19 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
20 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
21 UTSW
has photo
Grhl1 0.000 12 24572283-24617391 bp (+) 24578027 Unknown 2016-05-13
Stephen Lyon
 Body Weight - decreased
 growth/size
 skin/coat/nails
22 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
23 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
24 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
25 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
26 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
27 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)
28 UTSW
has photo
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
29 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
30 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (3;32) 2018-11-29
Diantha La Vine
 OVA-specific IgE - increased
31 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
32 UTSW Prkcq 0.000 2 11172108-11301222 bp (+) 11226986 Unknown 2016-11-08
Anne Murray
33 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101768063 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
34 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
35 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560779 Unknown 2018-01-31
Anne Murray
36 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
37 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
38 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 2018-10-04
External Program
 DSS: sensitive day 7
39 UTSW
has video
Myo7a 0.000 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (2;10) 2018-04-25
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
40 UTSW Galc 0.000 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2018-10-02
Diantha La Vine
 Body Weight - decreased
41 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
42 UTSW
has video
Grid2 0.000 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
 MCMV susceptibility
 nervous system
43 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
44 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
45 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
46 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
47 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 2017-06-01
Emre Turer
 behavior/neurological
 DSS: sensitive day 10
 hearing/vestibular/ear
48 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (15;167) 2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 MCMV susceptibility
49 UTSW Myd88 0.000 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (3;12) 2017-06-14
Katherine Timer
 hyposensitivity to TLR CpGODN + IFNg
 TLR signaling defect: hyposensitivity to CpG
 TLR signaling defect: hyposensitivity to CpG + IFNg
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
50 UTSW
has photo
Kdelr1 0.000 7 45872772-45883732 bp (+) 45881621 Unknown 2017-03-31
External Program
 FACS B cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS NK cells - increased
 FACS NK T cells - decreased
51 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885877 Unknown 2018-01-30
Anne Murray
52 UTSW 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
53 UTSW Cdh23 0.000 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-10-11
Diantha La Vine
 behavior/neurological
54 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (8;34) 2018-05-22
Anne Murray
 behavior/neurological
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 limbs/digits/tail phenotype
 nervous system
55 UTSW
has photo
Mc1r 0.000 8 123407107-123410744 bp (+) 123407958 Unknown 2016-05-13
Stephen Lyon
 pigmentation
 skin/coat/nails
56 UTSW 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
57 UTSW 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
58 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (6;41)
2016-05-13
Peter Jurek
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
59 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) 2016-05-17
Anne Murray
 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
60 UTSW Apbb2 0.000 5 66298703-66618784 bp (-) 66452250 Autosomal Semidominant (1;4) 2018-10-19
Diantha La Vine
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
61 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (1;10) 2016-09-16
Katherine Timer
 behavior/neurological
 hearing/vestibular/ear
62 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) 2018-03-29
Diantha La Vine
 immune system
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 NK cell response - decreased
 response to injected CpG DNA - decreased
 RVFV susceptibility
63 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
 Autosomal Recessive (4;20)
2016-12-09
Katherine Timer
 FACS B cells - decreased
 FACS B220 MFI - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
64 UTSW Slc5a2 0.000 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
 Autosomal Semidominant (2;8)
2018-04-11
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
 DSS: sensitive day 10
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: TNF production by macrophages
65 UTSW
has photo
Msx2 0.000 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) 2016-05-13
Anne Murray
 skin/coat/nails
 vision/eye
66 UTSW 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
67 UTSW 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
68 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
 Autosomal Recessive (3;29)

 Autosomal Semidominant (3;13)
2018-09-24
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
69 UTSW 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
70 UTSW 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
71 UTSW 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
72 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
 Autosomal Semidominant (3;15)
2018-09-24
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
73 UTSW
has photo
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
74 UTSW Map3k8 0.000 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (1;5) 2017-09-15
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
75 UTSW
has photo
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
76 UTSW 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
77 UTSW Clcnka 0.000 4 141384610-141398724 bp (-) 141395158 Autosomal Recessive (2;20) 2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
78 UTSW 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
79 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (2;12) 2017-08-03
Diantha La Vine
 FACS B1a cells - increased
 FACS B2 cells - decreased
80 UTSW Gsdmd 0.000 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 2018-11-16
Anne Murray
 Nlrc4 inflammasome: low response
81 UTSW 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
82 UTSW 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
83 UTSW 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
84 UTSW 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
85 UTSW 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
86 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 19110557 Unknown 2018-05-22
Anne Murray
 behavior/neurological
87 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
 Autosomal Dominant (1;5)

 Autosomal Semidominant (8;34)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
 post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
88 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66839303 Unknown (1;0)
 Autosomal Recessive (1;6)

 Autosomal Semidominant (2;11)
2016-12-09
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 Nlrc4 inflammasome: low response
89 UTSW 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
90 UTSW 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
91 UTSW
has video
Cdh23 0.000 10 60302748-60696490 bp (-) 60308036 Autosomal Recessive (7;38) 2018-10-11
Anne Murray
 behavior/neurological
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS CD44+ T cells - increased
92 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (10;65)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 Body Weight (BP Female) - increased
 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
93 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (7;43)
 Autosomal Semidominant (6;29)
2019-01-18
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD4+ 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
 FACS T cells - 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
94 UTSW Irf7 0.000 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) 2016-05-13
Anne Murray
 Nlrc4 inflammasome: high response
95 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) 2017-09-08
Diantha La Vine
 FACS B1a cells - increased
96 UTSW Lck 0.000 4 129548344-129573641 bp (-) 129555604 Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 DSS: resistant day 10
 DSS: sensitive day 7
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
97 UTSW Immp2l 0.000 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive (4;25) 2016-09-27
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 growth/size
98 UTSW Irf7 0.000 7 141262706-141266481 bp (-) 141265140 Unknown (1;0) 2017-06-07
Katherine Timer
 response to injected CpG DNA - decreased
 TLR signaling defect: type I IFN production by pDC
99 UTSW Kbtbd2 0.000 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (3;17) 2016-12-21
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
100 UTSW Cp 0.000 3 19957054-20009145 bp (+) 19989148 Unknown 2016-05-13
Anne Murray
 iron deficiency
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