Phenotypic Mutations

59 mutations affecting 48 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 59 of 59] per page Full List
 
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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 UTSW
has photo
Lyst 50-cal 13 13590409-13777440 bp (+) 13708212 Autosomal Recessive  MCMV susceptibility
pigmentation
skin/coat/nails
3 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
4 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
5 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in neutrophils
6 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Autosomal Recessive  limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
7 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
8 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
9 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Autosomal Recessive  decrease 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
10 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
11 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
12 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
13 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
14 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Semidominant  Circadian defect: decreased wheel revs/24H
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in NK cells
15 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive  growth/size
skin/coat/nails
16 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in macrophages
increase in neutrophils
increase in NK cells
increase in total IgE level
17 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive  decrease in body weight
growth/size
18 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Autosomal Recessive  behavior/neurological
nervous system
19 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive  skin/coat/nails
20 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
21 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Autosomal Recessive  decrease in response to injected CpG DNA
TLR signaling defect: type I IFN production by pDC
22 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Autosomal Recessive  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
23 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Autosomal Recessive  behavior/neurological
immune system
nervous system
24 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive  30 min GTT hyperglycemic
decreased NK killing
increase in body weight
increase in OVA-specific IgE
increase in total IgE level
25 UTSW
has photo
Ghr gnome 15 3317760-3583492 bp (-) 3388646 Autosomal Recessive  growth/size
26 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Recessive  behavior/neurological
growth/size
27 UTSW Diap1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Autosomal Semidominant  decrease in OVA-specific IgE
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ CD8 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
MCMV susceptibility
post-MCMV decrease in CD8+ T cells in CD3+ T cells
post-MCMV decrease in naive CD4 T cells in CD4 T cells
post-MCMV decrease in naive CD8 T cells in CD8 T cells
post-MCMV increase in CD4:CD8
post-MCMV increase in CD4+ T cells in CD3+ T cells
post-MCMV increase in CD44 MFI in CD4
post-MCMV increase in CD44 MFI in CD8
post-MCMV increase in CD44 MFI in T cells
post-MCMV increase in central memory CD4 T cells in CD4 T cells
post-MCMV increase in central memory CD8 T cells in CD8 T cells
post-MCMV increase in effector memory CD4 T cells in CD4 T cells
28 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Autosomal Recessive  hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
29 UTSW Rel Horus 11 23741514-23770970 bp (-) 23753215 Autosomal Semidominant  decrease in B1 cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in total IgE level
increase in CD4+ T cells
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ 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 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- increased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
30 UTSW Tfr2 iron-man 5 137569851-137587481 bp (+) 137583153 Autosomal Recessive  homeostasis/metabolism
iron excess
31 UTSW Ltbr kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
32 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
33 UTSW
has video
Pcdh15 mcduck 10 73099342-74649737 bp (+) 74626844 Unknown  behavior/neurological
34 UTSW Mlkl mecro 8 111311797-111338177 bp (-) 111319716 Autosomal Recessive  Macrophage necroptosis: low
35 UTSW
has photo
Hr mister_clean 14 70552212-70573548 bp (+) 70560065 Autosomal Recessive  skin/coat/nails
36 UTSW Malt1 mousebird 18 65430963-65478823 bp (+) 65475260 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
37 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
38 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
39 UTSW
has video
Myo15 parker 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
40 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive  decrease in body weight
growth/size
41 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
42 UTSW Prkdc screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive  decrease in B cells
increase in B1b cells
increase in neutrophils
43 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Autosomal Recessive  behavior/neurological
skeleton phenotype
44 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
increase in CD44 MFI in CD4
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
45 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
46 UTSW Lyst souris 13 13590409-13777440 bp (+) 13683224 Autosomal Recessive  decrease in NK cell response
hematopoietic system
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
47 UTSW Inpp5d styx 1 87620312-87720507 bp (+) 87669784 Autosomal Recessive  decrease in CD8 response
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
48 UTSW Ighd surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive  decrease in IgD MFI in B cells
49 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Recessive  pigmentation
skin/coat/nails
50 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Autosomal Recessive  DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
51 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Autosomal Recessive  immune system
RVFV susceptibility
skin/coat/nails
52 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
53 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Recessive  behavior/neurological
54 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Autosomal Recessive  decrease in NK cell response
decrease in NK cells
growth/size
hematopoietic system
immune system
MCMV susceptibility
55 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown  pigmentation
skin/coat/nails
56 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Autosomal Recessive  behavior/neurological
nervous system
57 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Autosomal Dominant  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
58 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells in B1 cells
59 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Autosomal Recessive  pigmentation
skin/coat/nails
[records 1 to 59 of 59]