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 UTSW 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
2 UTSW Tlr7 0.129 X 167304929-167330558 bp (-) 167307945 Unknown (1;0) 2016-05-13
Stephen Lyon
 immune system
 TLR signaling defect: TNF production by macrophages
3 UTSW Tlr13 X 106143204-106160493 bp (+) 106157377 Unknown 2016-05-13
Anne Murray
 normal phenotype
4 UTSW
has photo
Atp7a 0.425 X 106027276-106124926 bp (+) 106105250 Unknown 2016-05-13
Anne Murray
 lethality-embryonic/perinatal
 pigmentation
 skin/coat/nails
5 UTSW
has photo
Atp7a 0.425 X 106027276-106124926 bp (+) 106088491 Unknown 2016-05-13
Stephen Lyon
 pigmentation
 skin/coat/nails
6 UTSW
has photo
Atp7a 0.425 X 106027276-106124926 bp (+) 106088407 Unknown 2016-05-13
Stephen Lyon
 growth/size
 lethality-embryonic/perinatal
 lethality-postnatal
 pigmentation
 skin/coat/nails
7 UTSW Yipf6 X 98936316-98949017 bp (+) 98940782 Unknown (1;0) 2016-12-09
Anne Murray
 DSS: sensitive day 7
 immune system
8 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
9 UTSW Atp11c 0.106 X 60223290-60592698 bp (-) 60290036 Unknown 2016-05-13
Stephen Lyon
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 liver/biliary system
 reproductive system
10 UTSW 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
11 UTSW Cd40lg X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
12 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
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
has photo
Foxp3 1.000 X 7579676-7595243 bp (+) 7592654 Unknown 2016-05-13
Stephen Lyon
 growth/size
 hematopoietic system
 immune system
 lethality-postnatal
 limbs/digits/tail phenotype
 reproductive system
 skin/coat/nails
15 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
16 UTSW Adra2a 0.000 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
 Autosomal Semidominant (2;7)
2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
 30 min GTT hypoglycemic (male)
 30 Min. Insulin (Female) - increased
17 UTSW Adra2a 0.000 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (9;48)
 Autosomal Semidominant (4;19)
2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
 30 min GTT hypoglycemic (male)
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 Body Weight (Female) - decreased
 Fasting Insulin (Male) - increased
18 UTSW Hps6 0.000 19 46003478-46006173 bp (+) 46003836 Unknown 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 pigmentation
 skin/coat/nails
19 UTSW
has photo
Scd1 0.929 19 44394451-44407709 bp (-) 44400330 Unknown 2016-05-13
Stephen Lyon
 endocrine/exocrine gland
 immune system
 skin/coat/nails
20 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41356683 Unknown 2018-10-25
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
21 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) 2018-02-02
Anne Murray
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
22 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
23 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
24 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
25 UTSW Vldlr 0.339 19 27216484-27254231 bp (+) 27245654 Unknown 2016-09-20
Katherine Timer
 vision/eye
26 UTSW Vldlr 0.339 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (4;33) 2018-02-22
Anne Murray
 vision/eye
27 UTSW 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
28 APN 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
29 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
30 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 19110557 Unknown 2018-05-22
Anne Murray
 behavior/neurological
31 UTSW
has photo
Rorb 0.000 19 18930605-19111196 bp (-) 18983351 Unknown 2018-06-12
Diantha La Vine
 behavior/neurological
32 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
33 UTSW Ltbp3 0.484 19 5740904-5758532 bp (+) 5747688 Unknown 2016-05-13
Stephen Lyon
 craniofacial
 growth/size
 limbs/digits/tail phenotype
 skeleton phenotype
34 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
35 APN Nfkb2 0.693 19 46304737-46312090 bp (+) Unknown 2017-03-28
Katherine Timer
 FACS B cells - decreased
 immune system
36 UTSW Lrp5 0.768 19 3584828-3686564 bp (-) Unknown 2017-03-24
Katherine Timer
 vision/eye
37 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
38 UTSW
has photo
Mc4r 0.062 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (3;23)
 Autosomal Semidominant (4;24)
2018-07-25
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 growth/size
 MTT Value of PECs - decreased
 T-dependent humoral response defect- increased antibody response to rSFV
39 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
40 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
41 UTSW
has photo
Mc4r 0.062 18 66857715-66860472 bp (-) 66859142 Unknown 2018-12-10
Diantha La Vine
 adipose tissue
 growth/size
42 UTSW Malt1 0.167 18 65430962-65478823 bp (+) 65475260 Autosomal Recessive (5;22)
 Autosomal Semidominant (1;6)
2018-04-18
Diantha La Vine
 post-MCMV FACS B1b cells - increased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS CD11b+ 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
43 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
44 UTSW Malt1 0.167 18 65430962-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 2016-05-13
Anne Murray
 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
45 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (3;10) 2017-09-08
Diantha La Vine
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
46 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560779 Unknown 2018-01-31
Anne Murray
47 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
48 UTSW Kcnn2 0.283 18 45268860-45686024 bp (+) 45561253 Unknown 2018-05-22
Anne Murray
 behavior/neurological
49 UTSW
has photo
Spink5 1.000 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) 2018-05-22
Anne Murray
 immune system
 lethality-postnatal
 skin/coat/nails
50 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
51 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37896093 Autosomal Semidominant (1;6) 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
52 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
53 UTSW 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
54 UTSW
has photo
Dsg4 0.608 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 2018-11-29
Anne Murray
 skin/coat/nails
55 UTSW Zeb1 0.774 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (2;9) 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
56 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
57 UTSW Map3k8 0.000 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) 2017-09-11
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
58 UTSW Map3k8 0.000 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive (2;7) 2017-09-11
Diantha La Vine
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
59 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
60 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
61 UTSW 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
62 UTSW Prkce 0.000 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 2018-12-19
Anne Murray
 FACS NK cells - decreased
63 APN 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
64 UTSW Nlrc4 0.153 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) 2016-05-13
Peter Jurek
 Nlrc4 inflammasome: low response
65 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57444063 Unknown 2017-02-21
Katherine Timer
 immune system
 normal phenotype
66 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57402841 Unknown 2017-12-19
Anne Murray
 FACS macrophages - decreased
67 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 2017-02-21
Katherine Timer
 FACS macrophages - decreased
68 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 2017-12-19
Anne Murray
 FACS macrophages - decreased
69 UTSW Vav1 0.256 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (18;210)
 Autosomal Semidominant (2;23)
2018-10-25
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - decreased
70 UTSW Vav1 0.256 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) 2018-06-13
Anne Murray
 FACS B1 cells - decreased
71 UTSW 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
72 UTSW Ticam1 0.000 17 56269319-56276786 bp (-) 56271577 Unknown (2;0) 2017-04-06
Katherine Timer
 DSS: sensitive day 7
 immune system
 MCMV susceptibility
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
73 UTSW Ticam1 0.000 17 56269319-56276786 bp (-) 56271339 Unknown (1;0)
 Autosomal Dominant (3;12)
2016-09-22
Anne Murray
 TLR signaling defect: hyposensitivity to poly I:C + IFNg
 TLR signaling defect: TNF production by macrophages
74 UTSW Zfp318 0.000 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) 2018-12-06
Anne Murray
 post-MCMV FACS B1b cells - decreased
 post-MCMV FACS B2 cells - increased
 post-MCMV FACS IgD MFI - decreased
75 UTSW Adgrf5 0.149 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 1902-09-28
Anne Murray
 30 min GTT hyperglycemic
76 UTSW Tnf 0.775 17 35199381-35202007 bp (-) 35201674 Autosomal Dominant (4;27) 2017-03-28
Katherine Timer
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
77 UTSW Tnf 0.775 17 35199381-35202007 bp (-) 35200204 Unknown (1;0) 2017-04-18
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
78 UTSW Tap2 0.101 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
2018-01-31
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B1a cells in B1 cells - 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 CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 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 - decreased
 FACS naive CD4 T cells in CD4 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 NK cell response - decreased
 NK killing - decreased
79 UTSW Tap2 0.101 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) 2016-09-28
Katherine Timer
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - 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
80 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
 Autosomal Recessive (6;35)

 Autosomal Semidominant (1;6)
2017-09-11
Diantha La Vine
 FACS CD4:CD8 - increased
 MCMV susceptibility
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T cells - decreased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS T cells - decreased
81 APN Tap1 0.000 17 34187553-34197225 bp (+) 34194940 Unknown 2017-09-11
Diantha La Vine
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
82 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (3;20) 2017-09-15
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 Cryaa 0.000 17 31677933-31681724 bp (+) 31681025 Unknown 2016-05-13
Stephen Lyon
 vision/eye
84 UTSW Tap2 0.101 17 34203527-34216321 bp (+) Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 FACS CD8+ T cells - decreased
 immune system
 NK cell response - decreased
85 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) 2018-11-07
Diantha La Vine
 adenovirus infection of macrophages - increased
 immune system
 influenza proliferation in macrophages - increased
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 RVFV proliferation in macrophages - increased
86 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499537 Unknown (1;0)
 Autosomal Recessive (7;29)
2018-11-06
Diantha La Vine
 dsDNA induced type I IFN production - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 impaired response to dsDNA- type I IFN production by macrophages
87 UTSW Ifnar2 0.071 16 91372783-91405589 bp (+) 91383899 Unknown (3;0) 2018-08-24
Diantha La Vine
 adenovirus infection of macrophages - increased
 immune system
 impaired response to dsDNA- type I IFN production by macrophages
 influenza proliferation in macrophages - increased
 MCMV proliferation in macrophages - increased
 RVFV proliferation in macrophages - increased
 RVFV susceptibility
88 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
89 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
90 UTSW Klhl6 0.082 16 19946496-19983037 bp (-) 19957043 Autosomal Semidominant (4;25) 2018-12-18
Anne Murray
 FACS B1a cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
91 UTSW Pi4ka 1.000 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (4;21)
 Autosomal Semidominant (3;12)
2018-09-21
Anne Murray
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ T cells - increased
 FACS central 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
 MTT Value of PECs - decreased
92 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (22;264) 2018-03-28
Diantha La Vine
 Body Weight - decreased
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
93 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2018-03-28
Diantha La Vine
 post-MCMV FACS CD44+ CD4 T cells - increased
 post-MCMV FACS CD44+ T cells - increased
94 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15768025 Autosomal Semidominant (1;4) 2018-03-28
Diantha La Vine
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
95 UTSW 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
96 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (25;367) 2018-03-28
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
97 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) 2018-03-28
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS neutrophils - increased
98 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant (1;4) 2018-03-28
Diantha La Vine
 FACS CD8+ T cells in CD3+ T cells - decreased
99 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
 Autosomal Semidominant (3;12)
2018-03-28
Diantha La Vine
 post-MCMV FACS B cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS IgD+ B cell percentage - increased
 post-MCMV FACS IgM+ B cells - increased
100 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
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