Phenotypic Mutations

112 mutations affecting 95 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 112] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
~
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

and
and
and
1 UTSW Adra2a 0.000 splenda 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (7;39)
 Autosomal Semidominant (3;15)
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 (Male) - increased
 Body Weight (Female) - decreased
 Fasting Insulin (Male) - increased
2 UTSW
has video
Wdr81 1.000 jello 11 75440944-75454717 bp (-) 75441812 Autosomal Recessive (2;11) 2018-12-18
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Male) - decreased
3 UTSW Il2rb 0.116 flybase 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (25;290) 2018-12-18
Anne Murray
 Body Weight (BP Female) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B220 MFI - increased
 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 effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 OVA-specific IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
4 UTSW Fbp1 0.378 fruko 13 62864753-62888282 bp (-) 62875261 Autosomal Recessive (4;32) 2018-12-18
Anne Murray
 fasting hypoglycemia
 fasting hypoglycemia (female)
5 UTSW Irf1 0.000 endeka 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
6 UTSW Tlr6 0.192 insouciant 5 64952031-64960097 bp (-) 64954583 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
7 UTSW
has photo
Mc4r 0.062 southbeach 18 66857715-66860472 bp (-) 66859142 Unknown 2018-12-10
Diantha La Vine
 adipose tissue
 growth/size
8 UTSW
has video
Cacna1a 0.712 totter 8 84388440-84640246 bp (+) 84588753 Autosomal Recessive (5;22) 2018-12-06
Anne Murray
 behavior/neurological
9 UTSW Dock2 0.000 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (5;25)
2018-11-29
Diantha La Vine
 FACS B cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS NK cells - increased
 total IgE level - increased
10 UTSW Ikbkb 1.000 Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
 Autosomal Semidominant (5;21)
2018-11-20
Bruce Beutler
 IgG1 response to a Cysteine Protease (Papain) - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T MFI - decreased
 post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hyposensitivity to MALP2
11 UTSW Nek8 0.600 nerkkod 11 78166106-78176675 bp (-) 78173059 Autosomal Recessive (24;194) 2018-11-05
Anne Murray
 Blood Pressure: DBP Average - increased
 Blood Pressure: DBP Day 1 - increased
 Blood Pressure: DBP Day 2 - increased
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 1 - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: MBP Day 3 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 1 - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
12 UTSW Ppp3cb 0.000 Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
 Autosomal Recessive (4;21)

 Autosomal Semidominant (8;48)
2018-10-25
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 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 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
13 UTSW Prkcd 0.368 rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;5)
2018-10-25
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
14 UTSW Lyn 0.000 Lemon 4 3678115-3813122 bp (+) 3746768 Autosomal Recessive (1;5)
 Autosomal Semidominant (3;14)
2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
15 UTSW Insr 0.938 Patently 8 3122061-3279617 bp (-) 3159475 Autosomal Dominant (1;11) 2018-10-25
Anne Murray
 30 Min. Insulin - increased
 DSS: sensitive day 7
16 UTSW Tcf7l2 1.000 banned 19 55741810-55933654 bp (+) 55931432 Autosomal Recessive (3;15) 2018-10-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS central memory CD8 T cells in CD8 T cells - increased
17 UTSW Insr 0.938 gummi_bear 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;2)
2018-10-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
18 UTSW Myb 0.969 Huang_river 10 21124935-21160984 bp (-) 21152617 Autosomal Semidominant (3;20) 2018-10-23
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgM MFI - increased
 FACS macrophages - decreased
 FACS NK cells - increased
19 UTSW Myo1d 0.270 whisper 11 80482126-80780025 bp (-) 80484332 Autosomal Dominant (1;2)
 Autosomal Recessive (2;14)
2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS NK T cells - decreased
20 UTSW Ptprc 0.256 guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (18;95)
 Autosomal Semidominant (2;10)
2018-10-05
Diantha La Vine
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS T cells - decreased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW Tnip1 0.000 trinity 11 54910785-54962917 bp (-) 54939596 Autosomal Recessive (14;110)
 Autosomal Semidominant (4;17)
2018-10-02
External Program
 FACS B1 cells - increased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD8 MFI - increased
 FACS IgM MFI - decreased
 FACS NK cells - decreased
 OVA-specific IgE - increased
22 UTSW Diaph1 0.000 Guangzhou 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
23 UTSW Hr 0.000 angie 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
24 UTSW
has photo
Fa2h 0.261 sparse 8 111345135-111393824 bp (-) 111355398 Unknown 2018-09-19
Anne Murray
25 UTSW Atm 0.823 mockingbird2 9 53439149-53536740 bp (-) 53488587 Autosomal Recessive (4;34) 2018-09-12
Anne Murray
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
26 UTSW Gys2 0.494 hazelnut 6 142422613-142473109 bp (-) 142449455 Autosomal Recessive (3;19) 2018-08-29
Anne Murray
 fasting hypoglycemia
 fasting hypoglycemia (male)
27 UTSW
has photo
Egfr 0.891 Velvet 11 16752203-16918158 bp (+) 16904399 Unknown (1;0) 2018-08-28
Anne Murray
 immune system
 lethality-embryonic/perinatal
 skin/coat/nails
 touch/vibrissae
 vision/eye
28 UTSW Ifnar2 0.071 macro-2 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
29 UTSW Ntmt1 0.283 puny 2 30807826-30823033 bp (+) 30822365 Autosomal Recessive (7;49) 2018-08-08
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS IgD MFI - decreased
 Nlrc4 inflammasome: high response
30 UTSW Mlh1 0.000 andalusia 9 111228228-111271791 bp (-) 111271410 Autosomal Recessive (1;6) 2018-08-02
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
31 UTSW Mlh1 0.000 andalusia3 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) 2018-08-02
Anne Murray
 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
32 UTSW Ttc21b 1.000 plus-sized 2 66184327-66256617 bp (-) 66242679 Autosomal Recessive (2;18) 2018-07-27
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
33 UTSW Trpa1 0.119 petrified 1 14872648-14918862 bp (-) 14884116 Autosomal Recessive (1;7) 2018-07-19
Anne Murray
34 UTSW Trpa1 0.119 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) 2018-07-19
Anne Murray
35 UTSW Pax5 1.000 glacier2 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
 Autosomal Semidominant (2;32)
2018-07-18
Anne Murray
 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 MFI - decreased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 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
36 UTSW Aicda 0.000 bellezza 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
37 UTSW Prkcd 0.368 rigged2 14 30595354-30626210 bp (-) 30599743 Autosomal Recessive (2;11)
 Autosomal Semidominant (1;6)
2018-07-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
38 UTSW Syk 1.000 Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (1;0)
 Autosomal Dominant (1;4)
2018-06-28
External Program
 FACS B cells - increased
 IgE response to a Cysteine Protease (Papain) - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
39 UTSW Slc13a5 0.181 Punk 11 72241989-72267222 bp (-) 72262076 Autosomal Recessive (2;8)
 Autosomal Semidominant (2;10)
2018-06-15
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 growth/size
40 UTSW
has photo
Dclre1c 0.655 pee-wee 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (32;520) 2018-06-15
Anne Murray
 Body Weight - decreased
 Body Weight (BP Female) - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 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+ 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 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 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 - decreased
 FACS T cells - decreased
 growth/size
 skin/coat/nails
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
41 UTSW Dclre1c 0.655 kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (22;213) 2018-06-15
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1a cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11c+ DCs - 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS NK 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
42 UTSW
has photo
Rorb 0.000 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown 2018-06-12
Diantha La Vine
 behavior/neurological
43 UTSW
has video
Efnb3 0.000 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) 2018-05-22
Anne Murray
 behavior/neurological
44 UTSW
has video
Rorb 0.000 grasshopper 19 18930605-19111196 bp (-) 19110557 Unknown 2018-05-22
Anne Murray
 behavior/neurological
45 UTSW Epha4 0.781 frog 1 77367185-77515088 bp (-) 77481076 Unknown 2018-05-22
Anne Murray
 behavior/neurological
46 UTSW
has video
Rorb 0.000 dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (5;21) 2018-05-22
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
47 UTSW
has video
Scn8a 0.811 nymph 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
 Autosomal Recessive (1;5)
2018-05-22
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
48 UTSW Itk 0.391 itxaro 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive (9;51) 2018-05-17
Anne Murray
 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 central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 total IgE level - increased
49 UTSW Atp2b2 0.626 lohan 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (2;6) 2018-04-25
Anne Murray
 behavior/neurological
 Body Weight - decreased
 hearing/vestibular/ear
50 UTSW Bcl10 1.000 derek 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (16;159)

 Autosomal Semidominant (2;11)
2018-04-25
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
 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
51 UTSW Slc5a2 0.000 dregs 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
52 UTSW
has photo
Ptpn6 0.477 spin2 6 124720707-124738714 bp (-) 124732369 Unknown 2018-04-06
Diantha La Vine
 hematopoietic system
 immune system
53 UTSW Stat1 0.000 special 1 52119440-52161865 bp (+) 52139264 Autosomal Dominant (6;39)
 Autosomal Recessive (15;194)

 Autosomal Semidominant (3;33)
2018-04-04
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 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 CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 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 NK cells - decreased
 FACS NK T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
54 UTSW Ednrb 0.329 sposh 14 103814625-103844402 bp (-) 103821714 Autosomal Recessive (1;4) 2018-03-28
Anne Murray
 pigmentation
 skin/coat/nails
55 UTSW Prkdc 0.976 screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;6)
2018-03-28
Diantha La Vine
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS pDCs - increased
56 UTSW Prkdc 0.976 screamer4 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
57 UTSW Unc93b1 0.000 3d 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
58 UTSW Pik3ap1 0.000 sooni 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
59 UTSW Ighd 0.084 surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;5)
2018-02-02
Anne Murray
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: TNF production by macrophages
60 UTSW Cngb1 1.000 stevie 8 95239045-95306585 bp (-) 95260130 Unknown 2018-02-01
Anne Murray
 vision/eye
61 UTSW Fcer2a 0.000 arum 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 2018-01-28
Bruce Beutler
 FACS CD11c+ DCs - increased
62 UTSW Prkcq 0.000 celina 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 Oca2 0.236 charbon 7 56239760-56536518 bp (+) 56316405 Unknown 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
64 UTSW Lck 0.000 iconoclast 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
65 UTSW Adgre1 0.247 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 2017-12-19
Anne Murray
 FACS macrophages - decreased
66 UTSW Pax3 0.720 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Autosomal Dominant (1;6) 2017-12-19
Anne Murray
 pigmentation
 skin/coat/nails
67 UTSW Inpp5d 0.914 Sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
 Autosomal Recessive (3;21)
2017-10-20
Anne Murray
 125-03 Response - increased
 FACS IgM MFI - decreased
 FACS NK cells - decreased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
68 UTSW Syk 1.000 poppy 13 52583173-52648792 bp (+) 52640733 Unknown (2;0)
 Autosomal Dominant (2;2)

 Autosomal Recessive (2;2)


 Autosomal Semidominant (1;3)
2017-09-14
Anne Murray
 FACS B cells - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to MALP2
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
69 UTSW Rac2 0.110 Lamb 15 78559167-78572783 bp (-) 78564934 Autosomal Dominant (1;4)
 Autosomal Recessive (2;9)
2017-08-11
Anne Murray
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS CD8+ T cells - increased
70 UTSW Zap70 0.296 wanna 1 36761798-36782818 bp (+) 36770983 Unknown 2017-08-08
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
71 UTSW Zap70 0.296 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) 2017-08-08
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS T cells - decreased
72 UTSW Cd22 0.000 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (9;92) 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 MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
73 UTSW Cd22 0.000 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
 Autosomal Recessive (9;49)

 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 B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS IgD MFI - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T 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
74 UTSW Themis 0.153 currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (11;71) 2017-06-20
Katherine Timer
 FACS B:T cells - increased
 FACS B1a cells - decreased
 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+ T MFI - increased
 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
75 UTSW Per2 0.236 Kortiku 1 91415982-91459324 bp (-) 91423829 Autosomal Recessive (2;24)
 Autosomal Semidominant (2;33)
2017-05-09
Eva Marie Y. Moresco
76 UTSW
has photo
Kdelr1 0.000 daniel_gray 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
77 UTSW Tnf 0.775 Dome 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
78 UTSW Tlr3 0.163 Rakshasa 8 45395665-45411080 bp (-) 45397697 Autosomal Dominant (1;4) 2017-03-28
Katherine Timer
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
79 UTSW Nlrp3 0.050 Park3 11 59541568-59566956 bp (+) 59565850 Autosomal Semidominant (1;3) 2017-03-02
Katherine Timer
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
80 UTSW Nlrp3 0.050 Park4 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
 Autosomal Semidominant (1;6)
2017-03-02
Katherine Timer
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
81 UTSW Nlrp3 0.050 Nd6 11 59541568-59566956 bp (+) 59549354 Unknown (1;0) 2017-03-02
Katherine Timer
 immune system
 NALP3 inflammasome signaling defect
82 UTSW Adgre1 0.247 F480 17 57358686-57483529 bp (+) 57444063 Unknown 2017-02-21
Katherine Timer
 immune system
 normal phenotype
83 UTSW Adgre1 0.247 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 2017-02-21
Katherine Timer
 FACS macrophages - decreased
84 UTSW Cd8b1 0.050 Carlsbad 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
85 UTSW Kbtbd2 0.000 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (4;24) 2016-12-21
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
86 UTSW Cntnap1 0.504 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (3;13) 2016-12-16
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
87 UTSW Sppl2a 0.368 abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) 2016-12-08
Katherine Timer
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
88 UTSW
has photo
Tyrp1 0.230 chi 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) 2016-12-07
Anne Murray
 pigmentation
 skin/coat/nails
89 UTSW Aqp3 0.000 phoebus 4 41092722-41098183 bp (-) 41095252 Unknown (1;0) 2016-11-10
Anne Murray
 immune system
90 UTSW Ern2 0.105 Ernie2 7 122169893-122186207 bp (-) 122180862 Autosomal Dominant (1;1) 2016-11-10
Anne Murray
 DSS: sensitive day 7
91 UTSW
has photo
Hps5 0.253 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
2016-11-01
Katherine Timer
 dsDNA induced type I IFN production - increased
 FACS CD11c+ DCs - decreased
 FACS IgM MFI - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 pigmentation
 skin/coat/nails
92 UTSW
has photo
Hps5 0.253 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) 2016-11-01
Katherine Timer
 DSS: sensitive day 7
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
 vision/eye
93 UTSW Itgam 0.353 invisible 7 128062640-128118491 bp (+) 128070703 Autosomal Recessive (4;75)
 Autosomal Semidominant (1;7)
2016-10-27
Anne Murray
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS pDCs - increased
94 UTSW Ticam1 0.000 Yue 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
95 UTSW Pik3cd 0.864 grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Dominant (1;4)
 Autosomal Recessive (3;26)
2016-09-20
Anne Murray
 FACS B1 cells - decreased
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 OVA-specific IgE - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
96 UTSW Mlkl 0.094 secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) 2016-09-16
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to CpG + IFNg
97 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown 2016-05-13
Anne Murray
 normal phenotype
98 UTSW
has video
Dst 0.420 tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
 Autosomal Recessive (1;2)
2016-05-13
Anne Murray
 behavior/neurological
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
99 UTSW Kcnj8 1.000 sos 6 142564837-142571614 bp (-) 142565927 Unknown (1;0) 2016-05-13
Stephen Lyon
 cardiovascular system
 homeostasis/metabolism
 immune system
 lethality-postnatal
 TLR signaling defect: hypersensitivity to LPS
100 UTSW Krt25 0.137 Sinuous 11 99315516-99322951 bp (-) 99322630 Unknown 2016-05-13
Stephen Lyon
 skin/coat/nails
[records 1 to 100 of 112]