Phenotypic Mutations

88 mutations affecting 66 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 88 of 88] per page Full List
 
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1 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD11c+ DCs
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD8+ T cells in CD3+ T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in neutrophils
increase in NK cells
increase in NK T cells
2 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Semidominant  decrease in B:T cells
T-dependent humoral response defect- decreased antibody response to rSFV
3 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
4 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
5 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive  skin/coat/nails
6 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive  pigmentation
skin/coat/nails
7 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Autosomal Semidominant  vision/eye
8 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Unknown  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  increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
10 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Autosomal Recessive  behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
11 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 X-linked Recessive  pigmentation
skin/coat/nails
12 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive  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  decrease in B cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1 cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in B1b cells
increase in CD11c+ DCs
increase in CD44 MFI in CD8
increase in macrophages
14 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
15 UTSW
has photo
Mmp14 cartoon 14 54431604-54441258 bp (+) 54439999 Autosomal Recessive  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 Autosomal Recessive  pigmentation
skin/coat/nails
17 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in neutrophils
increase in NK cells
18 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
19 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Autosomal Recessive  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 Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 Autosomal Semidominant  decrease in response to injected CpG DNA
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
21 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Autosomal Semidominant  TLR signaling defect: TNF production by macrophages
22 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
23 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant  decrease in body weight
24 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Autosomal Recessive  craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
25 UTSW Card11 dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Recessive  decrease in B1a cells in B1 cells
increase in B1b cells in B1 cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
26 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Autosomal Recessive  decrease in B cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
TLR signaling defect: hyposensitivity to LPS
27 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive  decrease in body weight
28 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Autosomal Semidominant  DSS: sensitive
immune system
29 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive  MCMV susceptibility
pigmentation
skin/coat/nails
30 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Autosomal Recessive  pigmentation
skin/coat/nails
31 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Recessive  behavior/neurological
growth/size
32 UTSW Slc45a2 grey_goose 15 11000721-11029233 bp (+) 11002981 Autosomal Recessive  pigmentation
skin/coat/nails
33 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Autosomal Dominant  anemia
34 UTSW Cacna2d2 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive  growth/size
35 UTSW Irf4 Honey2 13 30749226-30766927 bp (+) 30761490 Autosomal Semidominant  increase in B1 cells
increase in IgM MFI in B cells
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 Irf7 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Semidominant  dsDNA induced type I IFN production: decreased
37 UTSW Card11 hubei 5 140872999-141000596 bp (-) 140906767 Autosomal Recessive  increase in B1a cells
38 UTSW Irf7 inept 7 141262706-141266481 bp (-) 141265140 Autosomal Recessive  decrease in response to injected CpG DNA
TLR signaling defect: type I IFN production by pDC
39 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Autosomal Recessive  iron deficiency
40 UTSW Tfr2 iron-man 5 137569851-137587481 bp (+) 137583153 Autosomal Recessive  homeostasis/metabolism
iron excess
41 UTSW Kcnn2 jitter 18 45268860-45685887 bp (+) 45561253 Autosomal Recessive  behavior/neurological
nervous system
42 UTSW
has photo
Slc45a2 june_gloom 15 11000721-11029233 bp (+) 11023443 Autosomal Recessive  pigmentation
skin/coat/nails
43 UTSW
has photo
Sox10 Kat 15 79154913-79164490 bp (-) 79163319 Autosomal Dominant  pigmentation
skin/coat/nails
44 UTSW Myd88 lackadaisical 9 119335934-119341411 bp (-) 119338692 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
45 UTSW Dock2 liaoning 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
increase in B1b cells in B1 cells
increase in CD8+ T cells in CD3+ T cells
46 UTSW Lyst lightspeed 13 13590409-13777440 bp (+) 13740536 Autosomal Recessive  MCMV susceptibility
47 UTSW Irf9 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Semidominant  dsDNA induced type I IFN production: increased
Macrophage necroptosis: high
48 UTSW Ifngr1 marigold 10 19591949-19610229 bp (+) 19601485 Autosomal Recessive  decrease in macrophages
increase in B cells
increase in IgD+ B cells
increase in IgM+ B cells
TLR signaling defect: hyposensitivity to poly I:C
49 UTSW
has photo
Tmprss6 mask 15 78439668-78468634 bp (-) 78464455 Autosomal Recessive  embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
50 UTSW Zap70 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive  increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD8 T cells
increase in CD44+ T cells
increase in central memory CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to rSFV
51 UTSW Gatm mrbig 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive  decrease in body weight
DSS: sensitive day 10
DSS: sensitive day 7
52 APN Zap70 mrtless 1 36761798-36782818 bp (+) 36781149 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8 response
decrease in CD8+ T cells
immune system
53 UTSW Nlrp3 Nd5 11 59541568-59566955 bp (+) 59565879 Autosomal Semidominant  immune system
NALP3 inflammasome signaling defect
54 UTSW Nlrp3 Nd7 11 59541568-59566955 bp (+) 59555875 Unknown  immune system
NALP3 inflammasome signaling defect
55 UTSW Mlkl necro 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive  Macrophage necroptosis: low
56 UTSW Cd40 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Recessive  decrease in total IgE level
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
57 UTSW Irak4 otiose 15 94543643-94581815 bp (+) 94561484 Autosomal Recessive  decrease in response to injected CpG DNA
immune system
increase in 125-03 response
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
58 UTSW Ikbkg panr2 X 74393290-74453854 bp (+) 74437222 X-linked Recessive  immune system
MCMV susceptibility
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: TNF production by macrophages
59 UTSW
has video
Myo15 parker 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
60 UTSW
has video
Scn10a Possum 9 119608456-119719032 bp (-) 119638705 Autosomal Dominant  behavior/neurological
nervous system
61 UTSW Rac2 potter2 15 78559169-78572783 bp (-) 78565454 Unknown  decrease in B220 MFI in B cells
decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in IgD MFI in B cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
decrease in total IgE after 2nd OVA/Alum Challenge (day 7)
decreased CTL killing
decreased NK killing
increase in B:T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD8 T cells
increase in CD44+ T cells
increase in CD8+ T cells in CD3+ T cells
increase in central memory CD4 T cells in CD4 T cells
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells in CD8 T cells
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
62 APN Dock8 primurus 19 24999529-25202432 bp (+) 25183609 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
63 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Autosomal Recessive  behavior/neurological
nervous system
64 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive  decrease in B cells
decrease in CD4:CD8
decrease in CD4+ T cells in CD3+ T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD8+ T cells in CD3+ T cells
increase in macrophages
increase in OVA-specific IgE
increase in total IgE level
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
65 UTSW Zbtb1 scant 12 76370266-76396950 bp (+) 76385461 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
66 UTSW Itch scratch 2 155133509-155226855 bp (+) 155172561 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
67 UTSW Prkdc screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive  decrease in body weight
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
68 UTSW Prkdc screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive  decrease in B cells
increase in B1b cells
increase in neutrophils
69 UTSW Prkdc Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant  post-MCMV decrease in B1a cells in B1 cells
post-MCMV decrease in effector memory CD4 T cells in CD4 T cells
post-MCMV increase in B cells
post-MCMV increase in B1b cells in B1 cells
post-MCMV increase in IgD+ B cells
post-MCMV increase in IgM+ B cells
70 UTSW
has photo
Egfr set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive  skin/coat/nails
71 UTSW
has photo
Tyr siamese 7 87427405-87493411 bp (-) 87438044 Autosomal Recessive  pigmentation
skin/coat/nails
72 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in T cells
DSS: resistant day 10
increase in B:T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
73 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Autosomal Recessive  hematopoietic system
74 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Semidominant  decrease in IgD MFI in B cells
decrease in IgD+ B cells
75 UTSW Lyst Swallow 13 13590409-13777440 bp (+) 13757422 Autosomal Semidominant  immune system
increase in phagocytosis in PECs
76 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Autosomal Semidominant  immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
77 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
78 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant  increase in B1 cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
79 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Autosomal Semidominant  decrease in NK cells
hematopoietic system
immune system
80 UTSW Prkcb Untied 7 122288751-122634402 bp (+) 122582439 Autosomal Dominant  immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
81 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive  pigmentation
skin/coat/nails
82 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive  pigmentation
skin/coat/nails
83 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 X-linked Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
84 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
85 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant  decrease in IgD MFI in B cells
86 UTSW
has photo
Mbtps1 woodrat 8 119508156-119558761 bp (-) 119529030 Autosomal Recessive  DSS: sensitive
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
87 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Autosomal Recessive  skin/coat/nails
88 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Autosomal Recessive  immune system
limbs/digits/tail phenotype
skeleton phenotype
[records 1 to 88 of 88]