Phenotypic Mutations

98 mutations affecting 74 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 98 of 98] per page Full List Export
 
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1 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (8;55) CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells in CD3+ T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
2 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
B:T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
3 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant (2;16) TLR signaling defect: hyposensitivity to CpG
4 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
5 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;24)
Autosomal Semidominant (1;4)
CD44+ CD8 T cells - increased
CD8+ T cells - increased
CD8+ T cells in CD3+ T cells - increased
skin/coat/nails
6 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
7 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown vision/eye
8 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Autosomal Recessive (1;6) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
9 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
10 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Unknown behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
11 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown pigmentation
skin/coat/nails
12 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
Autosomal Semidominant (1;3)
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
13 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (8;52)
Autosomal Semidominant (3;14)
B cells - decreased
B1 cells - increased
B1a cells - increased
B1a cells in B1 cells - increased
B1b cells - increased
B2 cells - decreased
CD11c+ DCs - increased
CD44 MFI in CD8 - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
14 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
15 UTSW
has photo
Mmp14 cartoon 14 54431604-54441258 bp (+) 54439999 Unknown craniofacial
growth/size
lethality-embryonic/perinatal
life span-post-weaning/aging
reproductive system
vision/eye
16 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) pigmentation
skin/coat/nails
17 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (4;25) CD4+ T cells - decreased
CD8+ T cells - decreased
neutrophils - increased
NK cells - increased
T cells - decreased
18 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
Autosomal Semidominant (3;14)
CD4+ T cells - decreased
CD8+ T cells - decreased
19 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
20 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) NLRP3 inflammasome: low response
21 UTSW Pde6d costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (3;16)
Body Weight - decreased
Body Weight (Female) - decreased
22 UTSW Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
23 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) TLR signaling defect: TNF production by macrophages
24 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
25 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) Body Weight - decreased
26 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
27 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
28 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
B cells - decreased
B220 MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
TLR signaling defect: hyposensitivity to LPS
29 UTSW Socs7 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (2;8) Body Weight - decreased
30 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (2;13)
Autosomal Semidominant (1;4)
Body Weight - decreased
31 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Unknown DSS: sensitive
immune system
32 UTSW Ptpn6 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (7;54)
Autosomal Semidominant (4;28)
B1 cells - increased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells in CD3+ T cells - increased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
33 UTSW Hcfc2 feckless 10 82696160-82742428 bp (+) 82712061 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
34 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive (2;5) MCMV susceptibility
pigmentation
skin/coat/nails
35 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Unknown pigmentation
skin/coat/nails
36 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (5;19)
behavior/neurological
growth/size
37 UTSW Slc45a2 grey_goose 15 11000721-11029233 bp (+) 11002981 Unknown pigmentation
skin/coat/nails
38 UTSW
has photo
Oca2 hardy 7 56239760-56536517 bp (+) 56295460 Autosomal Recessive (2;10) pigmentation
skin/coat/nails
39 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Unknown anemia
40 UTSW Cacna2d2 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) growth/size
41 UTSW Irf4 Honey2 13 30749226-30766927 bp (+) 30761490 Autosomal Dominant (1;7)
Autosomal Recessive (1;13)

Autosomal Semidominant (2;18)
B1 cells - increased
IgM MFI in B cells - 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
42 UTSW Irf7 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
dsDNA induced type I IFN production - decreased
43 UTSW Card11 hubei 5 140872999-141000596 bp (-) 140906767 Autosomal Recessive (1;7) B1a cells - increased
44 UTSW Irf7 inept 7 141262706-141266481 bp (-) 141265140 Unknown (1;0) response to injected CpG DNA - decreased
TLR signaling defect: type I IFN production by pDC
45 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Unknown iron deficiency
46 UTSW Tfr2 iron-man 5 137569851-137587481 bp (+) 137583153 Unknown homeostasis/metabolism
iron excess
47 UTSW Kcnn2 jitter 18 45268860-45685887 bp (+) 45561253 Unknown behavior/neurological
nervous system
48 UTSW
has photo
Slc45a2 june_gloom 15 11000721-11029233 bp (+) 11023443 Unknown pigmentation
skin/coat/nails
49 UTSW
has photo
Sox10 Kat 15 79154913-79164490 bp (-) 79163319 Unknown (1;0) pigmentation
skin/coat/nails
50 UTSW Myd88 lackadaisical 9 119335934-119341411 bp (-) 119338692 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
51 UTSW Dock2 liaoning 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) B1b cells in B1 cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
52 UTSW Lyst lightspeed 13 13590409-13777440 bp (+) 13740536 Autosomal Recessive (1;5) MCMV susceptibility
53 UTSW Irf9 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (2;11)
Autosomal Semidominant (4;20)
dsDNA induced type I IFN production - increased
Macrophage necroptosis: high
54 UTSW Ifngr1 marigold 10 19591949-19610229 bp (+) 19601485 Autosomal Dominant (4;16)
Autosomal Recessive (3;22)
B cells - increased
IgD+ B cells - increased
IgM+ B cells - increased
macrophages - decreased
TLR signaling defect: hyposensitivity to poly I:C
55 UTSW Ltbr marine_blue 6 125306571-125313885 bp (-) 125312808 Autosomal Recessive (8;72)
Autosomal Semidominant (6;36)
B cells - increased
B:T cells - increased
B1 cells - increased
B220 MFI in B cells - decreased
CD44 MFI in CD4 - decreased
CD44 MFI in CD8 - decreased
CD44 MFI in T cells - decreased
CD44+ CD4 T cells - decreased
CD44+ T cells - decreased
CD8+ T cells - decreased
CTL killing - increased
NK cells - decreased
NK killing - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
56 UTSW
has photo
Tmprss6 mask 15 78439668-78468634 bp (-) 78464455 Unknown embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
57 UTSW Zap70 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (7;29) CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD8 T cells - increased
CD44+ T cells - increased
central memory CD8 T cells in CD8 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
58 UTSW
has photo
Kitl mooyah 10 100015630-100100413 bp (+) 100088222 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
59 UTSW Gatm mrbig 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive (3;23)
Autosomal Semidominant (1;7)
Body Weight - decreased
DSS: sensitive day 10
DSS: sensitive day 7
60 APN Zap70 mrtless 1 36761798-36782818 bp (+) 36781149 Unknown CD4+ T cells - decreased
CD8 response - decreased
CD8+ T cells - decreased
immune system
61 UTSW Nlrp3 Nd5 11 59541568-59566955 bp (+) 59565879 Unknown (1;0) immune system
NALP3 inflammasome signaling defect
62 UTSW Nlrp3 Nd7 11 59541568-59566955 bp (+) 59555875 Unknown immune system
NALP3 inflammasome signaling defect
63 UTSW Mlkl necro 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive (2;34) Macrophage necroptosis: low
64 UTSW Cd40 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
Autosomal Recessive (3;35)

Autosomal Semidominant (1;4)
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
65 UTSW Muc2 nomoco 7 141690340-141754693 bp (+) 141753719 Autosomal Recessive (2;15) DSS: sensitive
DSS: sensitive day 10
DSS: sensitive day 7
66 UTSW Irak4 otiose 15 94543643-94581815 bp (+) 94561484 Unknown (2;0) 125-03 Response - increased
immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
67 UTSW Ikbkg panr2 X 74393290-74453854 bp (+) 74437222 Unknown (2;0) immune system
MCMV susceptibility
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: TNF production by macrophages
68 UTSW
has video
Myo15 parker 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
69 UTSW
has video
Scn10a Possum 9 119608456-119719032 bp (-) 119638705 Unknown behavior/neurological
nervous system
70 UTSW Rac2 Potter2 15 78559169-78572783 bp (-) 78565454 Autosomal Dominant (8;103)
Autosomal Recessive (6;57)

Autosomal Semidominant (12;249)
B:T cells - increased
B220 MFI in B cells - decreased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD8 T cells - increased
CD44+ T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
CTL killing - decreased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
IgD MFI in B cells - decreased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
NK killing - decreased
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
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
71 APN Dock8 primurus 19 24999529-25202432 bp (+) 25183609 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
72 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Unknown behavior/neurological
nervous system
73 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) B cells - decreased
CD4:CD8 - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
OVA-specific 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 level - increased
74 UTSW Zbtb1 scant 12 76370266-76396950 bp (+) 76385461 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
75 UTSW Itch scratch 2 155133509-155226855 bp (+) 155172561 Autosomal Recessive (3;18)
Autosomal Semidominant (1;2)
IgE response to a Cysteine Protease (Papain) - increased
total IgE level - increased
76 UTSW Prkdc screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
Autosomal Semidominant (1;4)
Body Weight - 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
77 UTSW Prkdc screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) B cells - decreased
B1b cells - increased
neutrophils - increased
78 UTSW Prkdc Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
Autosomal Semidominant (3;12)
post-MCMV B cells - increased
post-MCMV B1a cells in B1 cells - decreased
post-MCMV B1b cells in B1 cells - increased
post-MCMV effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV IgD+ B cells - increased
post-MCMV IgM+ B cells - increased
79 UTSW
has photo
Egfr set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) skin/coat/nails
80 UTSW
has photo
Tyr siamese 7 87427405-87493411 bp (-) 87438044 Unknown pigmentation
skin/coat/nails
81 UTSW Vldlr spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (4;33) eye: chorioretinal lesions
eye: decrease in ONL thickness
eye: retinal cystic atrophy
vision/eye
82 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive (13;138) B:T cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
DSS: resistant day 10
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
83 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown hematopoietic system
84 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4)
Autosomal Semidominant (1;12)
IgD MFI in B cells - decreased
IgD+ B cells - decreased
85 UTSW Lyst Swallow 13 13590409-13777440 bp (+) 13757422 Autosomal Semidominant (2;11) immune system
phagocytosis in PECs - increased
86 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Unknown immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
87 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) behavior/neurological
hearing/vestibular/ear
nervous system
88 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (3;16) B1 cells - increased
B1a cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
89 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Unknown hematopoietic system
immune system
NK cells - decreased
90 UTSW Prkcb Untied 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
91 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) pigmentation
skin/coat/nails
92 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive (1;3) pigmentation
skin/coat/nails
93 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) T-dependent humoral response defect- decreased antibody response to rSFV
94 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive (5;62) T-dependent humoral response defect- decreased antibody response to rSFV
95 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) IgD MFI in B cells - decreased
96 UTSW
has photo
Mbtps1 woodrat 8 119508156-119558761 bp (-) 119529030 Unknown (1;0) DSS: sensitive
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
97 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Unknown skin/coat/nails
98 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Unknown immune system
limbs/digits/tail phenotype
skeleton phenotype
[records 1 to 98 of 98]