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 photo
a 0.149 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
2 UTSW
has photo
a 0.149 2 154791402-155051012 bp (+) Unknown 2016-05-13
Stephen Lyon
 pigmentation
 skin/coat/nails
3 UTSW
has photo
a 0.149 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
4 UTSW
has photo
Adam17 0.699 12 21323509-21373632 bp (-) 21340750 Unknown 2016-11-10
Anne Murray
 skin/coat/nails
 vision/eye
5 UTSW Adamts20 0.239 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
6 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
7 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
 Autosomal Semidominant (2;8)
2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
 T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
8 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
9 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94326699 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
10 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
11 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
12 UTSW Adamts20 0.239 15 94270163-94465418 bp (-) 94335561 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
13 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
14 UTSW Adamts20 0.239 15 94270163-94465418 bp (-) Unknown 2016-05-13  pigmentation
 skin/coat/nails
15 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) 2018-10-10
Anne Murray
 pigmentation
 skin/coat/nails
16 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57444063 Unknown 2017-02-21
Katherine Timer
 immune system
 normal phenotype
17 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 2017-02-21
Katherine Timer
 FACS macrophages - decreased
18 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57402841 Unknown 2017-12-19
Anne Murray
 FACS macrophages - decreased
19 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 2017-12-19
Anne Murray
 FACS macrophages - decreased
20 UTSW Adgrf5 0.149 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 1902-09-28
Anne Murray
 30 min GTT hyperglycemic
21 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
22 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
23 UTSW Agtpbp1 0.614 13 59445742-59585227 bp (-) 59512323 Unknown 2018-05-22
Anne Murray
 behavior/neurological
24 UTSW
has video
Agtpbp1 0.614 13 59445742-59585227 bp (-) 59525241 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
25 UTSW Agtpbp1 0.614 13 59445742-59585227 bp (-) 59474550 Autosomal Recessive (7;19) 2018-04-20
Anne Murray
 Body Weight (DSS Male) - decreased
26 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
27 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
28 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
29 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
30 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
31 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
32 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (1;5) 2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Female) - increased
33 UTSW
has photo
Alx4 0.579 2 93642384-93681339 bp (+) 93675369 Unknown 2016-05-13
Stephen Lyon
 craniofacial
 limbs/digits/tail phenotype
34 UTSW Ank1 0.322 8 22974844-23150497 bp (+) 23097638 Unknown 2016-05-13
Anne Murray
 anemia
35 UTSW
has photo
Ap3b1 0.470 13 94358960-94566317 bp (+) 94528257 Autosomal Recessive (1;4) 2018-02-22
Anne Murray
 pigmentation
 skin/coat/nails
36 UTSW
has photo
Ap3b1 0.470 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) 2018-01-15
Diantha La Vine
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
37 UTSW
has photo
Ap3d1 0.538 10 80706956-80742264 bp (-) 80730042 Autosomal Semidominant (1;0) 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
38 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)
39 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)
40 UTSW Aqp3 0.000 4 41092722-41098183 bp (-) 41095252 Unknown (1;0) 2016-11-10
Anne Murray
 immune system
41 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
42 UTSW
has video
Atcay 0.244 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
 behavior/neurological
43 UTSW Atm 0.823 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (9;63) 2018-08-27
Anne Murray
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - 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
44 UTSW Atm 0.823 9 53439149-53536740 bp (-) 53488587 Autosomal Recessive (8;101) 2018-09-12
Anne Murray
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
45 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
46 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
47 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
48 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
49 UTSW Atp2b2 0.626 6 113743831-114042613 bp (-) 113773388 Autosomal Recessive (1;4) 2019-01-18
Anne Murray
 Body Weight (DSS Male) - decreased
50 UTSW Atp2b2 0.626 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (4;14) 2019-01-17
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 Body Weight (Female) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 hearing/vestibular/ear
51 UTSW Atp4a 0.133 7 30712209-30725534 bp (+) 30715800 Unknown 2016-05-13
Stephen Lyon
 hematopoietic system
52 UTSW
has photo
Atp7a 0.425 X 106027276-106124926 bp (+) 106088491 Unknown 2016-05-13
Stephen Lyon
 pigmentation
 skin/coat/nails
53 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
54 UTSW
has photo
Atp7a 0.425 X 106027276-106124926 bp (+) 106105250 Unknown 2016-05-13
Anne Murray
 lethality-embryonic/perinatal
 pigmentation
 skin/coat/nails
55 UTSW Atp7b 0.393 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) 2017-12-19
Anne Murray
 liver/biliary system
 MTT Value of PECs - decreased
56 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
57 UTSW Bcl10 1.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (17;163)

 Autosomal Semidominant (2;11)
2019-01-17
Anne Murray
 FACS B1 cells - decreased
 FACS CD4+ T cells - 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 CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 NK cell response - decreased
 NK killing - decreased
 OVA-specific IgE - increased
 OVA-specific IgE after 2nd OVA/Alum - 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
 total IgE level - increased
58 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive (8;51)
 Autosomal Semidominant (3;14)
2018-03-30
Diantha La Vine
 125-03 Response - increased
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
59 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 2018-04-04
Anne Murray
 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
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
60 UTSW
has photo
Bicc1 1.000 10 70922832-71159700 bp (-) 71027954 Unknown 2016-05-13
Stephen Lyon
 homeostasis/metabolism
 life span-post-weaning/aging
 renal/urinary system
61 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
62 UTSW Bloc1s5 0.000 13 38592842-38635109 bp (-) 38606734 Unknown 2016-05-13
Stephen Lyon
 hearing/vestibular/ear
 pigmentation
 skin/coat/nails
63 UTSW
has video
Cacna1a 0.712 8 84388440-84640246 bp (+) 84588753 Autosomal Dominant (1;4)
 Autosomal Recessive (5;22)
2018-12-06
Anne Murray
 behavior/neurological
 Motor: Rotarod Weight - decreased
64 UTSW Cacna2d2 0.795 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) 2017-09-13
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
65 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885877 Unknown 2018-01-30
Anne Murray
66 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) 2017-09-08
Diantha La Vine
 FACS B1a cells - increased
67 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140891080 Unknown (1;0) 2018-04-18
Diantha La Vine
 CTL killing - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 NK cell response - decreased
 skin/coat/nails
68 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140876495 Unknown 2017-09-08
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
69 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885945 Autosomal Semidominant (1;7) 2018-01-30
Anne Murray
 FACS B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
70 APN Card11 0.000 5 140872990-141000582 bp (-) 140897997 Unknown 2017-09-08
Diantha La Vine
 CD8 response - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 NK cell response - decreased
 skin/coat/nails
71 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140883782 Autosomal Dominant (1;4)
 Autosomal Recessive (9;108)

 Autosomal Semidominant (5;51)
2017-09-08
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B:T cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS NK T cells - increased
 FACS 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
72 UTSW
has video
Cars2 0.950 8 11513977-11550783 bp (-) 11526034 Unknown 2016-05-13
Bruce Beutler
 behavior/neurological
73 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
74 UTSW Ccr7 0.149 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (2;11)
 Autosomal Semidominant (1;5)
2016-05-13
Bruce Beutler
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS macrophages - decreased
75 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
76 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
77 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
78 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (8;88) 2017-08-04
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
79 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30877787 Unknown 2018-07-27
Diantha La Vine
 FACS B cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
80 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
2017-08-03
Diantha La Vine
 FACS B cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1a cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
81 UTSW Cd247 0.069 1 165788681-165877277 bp (+) 165855214 Unknown 2016-05-13
Stephen Lyon
 hematopoietic competition - disadvantage
 immune system
82 UTSW Cd36 0.165 5 17781690-17888801 bp (-) 17813088 Autosomal Recessive (1;5) 2017-10-05
External Program
83 UTSW Cd36 0.165 5 17781690-17888801 bp (-) 17874966 Unknown (1;0) 2017-03-28
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
 vision/eye
84 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
85 UTSW Cd3e 0.000 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
86 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
87 APN Cd4 0.000 6 124864692-124888221 bp (-) 124866684 Unknown 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
88 APN Cd4 0.000 6 124864692-124888221 bp (-) 124872977 Unknown 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
89 APN Cd4 0.000 6 124864692-124888221 bp (-) 124873140 Unknown 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
90 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
91 UTSW Cd40 0.000 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
 Autosomal Recessive (3;35)

 Autosomal Semidominant (1;4)
2017-08-30
Anne Murray
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory 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
 total IgE level - decreased
92 UTSW Cd40lg X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
93 UTSW Cd44 0.344 2 102811141-102901665 bp (-) 102865370 Autosomal Dominant (2;30)
 Autosomal Semidominant (7;62)
2018-09-18
Anne Murray
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - decreased
 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 - decreased
94 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
95 UTSW Cd79a 0.126 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (2;13)
 Autosomal Semidominant (1;5)
2017-09-15
Anne Murray
 FACS B1 cells - decreased
 FACS B1b cells - decreased
 FACS IgD MFI - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
96 UTSW Cd79b 0.030 11 106311341-106314762 bp (-) 106312441 Autosomal Recessive (11;178)
 Autosomal Semidominant (2;28)
2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 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 effector memory CD4 T cells in CD4 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - increased
97 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
98 UTSW Cd8a 0.040 6 71373427-71379173 bp (+) 71373872 Unknown 2016-09-22
Anne Murray
99 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
100 UTSW Cdh23 0.000 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-10-11
Diantha La Vine
 behavior/neurological
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