Phenotypic Mutations

39 mutations affecting 33 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 39 of 39] per page Full List Export
 
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Mode of Inheritance question?
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1 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
2 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
3 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
4 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
adipose tissue
Body Weight - increased
growth/size
5 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
fasting hyperinsulinemia
high insulin levels after a 30-minute glucose challenge
Pfizer: increase in HOMA Residual
Pfizer: increase in HOMA-IR
6 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) pigmentation
skin/coat/nails
7 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
Autosomal Recessive (1;1)
pigmentation
skin/coat/nails
8 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
Autosomal Semidominant (1;5)
B cells - increased
B:T cells - increased
cellular phenotype
hematopoietic system
IgD+ B cells - increased
IgM+ B cells - increased
immune system
9 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) Body Weight - decreased
growth/size
10 UTSW
has photo
Alms1 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (16;118)

Autosomal Semidominant (3;10)
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
fasting hyperglycemia
fasting hyperglycemia (female)
fasting hyperinsulinemia
growth/size
high insulin levels after a 30-minute glucose challenge
11 UTSW Ptprc fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
Autosomal Semidominant (1;17)
B cells - decreased
B:T cells - decreased
B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
central memory CD4 T cells in CD4 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
T cells - decreased
12 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Unknown pigmentation
skin/coat/nails
13 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) B:T cells - decreased
B1a cells - increased
B2 cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
14 UTSW Irf8 Gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) CD8+ T cells - decreased
cellular phenotype
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
15 UTSW
has photo
Ednrb gus-gus 14 103814625-103844173 bp (-) 103820013 Autosomal Recessive (1;2) lethality-postnatal
pigmentation
skin/coat/nails
16 UTSW
has photo
Gk5 homer 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (8;57) CD44 MFI in CD8 - increased
CD44+ CD8 T cells - increased
CD44+ T cells - increased
central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
17 UTSW Tg ito 15 66670753-66850721 bp (+) 66766162 Unknown (1;0)
Autosomal Recessive (3;18)
Body Weight - decreased
18 UTSW Lck lockdown 4 129548349-129573641 bp (-) 129558127 Autosomal Recessive (13;68)
Autosomal Semidominant (2;8)
B:T cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - increased
CD8+ T cells in CD3+ T cells - increased
19 UTSW
has photo
Tmprss6 masquerade 15 78439668-78468634 bp (-) 78468000 Unknown hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
20 UTSW Myo5a naoki 9 75071015-75223688 bp (+) 75161492 Autosomal Recessive (1;2) behavior/neurological
pigmentation
skin/coat/nails
21 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) pigmentation
skin/coat/nails
22 UTSW Nlrp3 Park2 11 59541568-59566955 bp (+) 59565128 Autosomal Dominant (1;4)
Autosomal Semidominant (1;5)
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
23 UTSW Nlrp3 Park7 11 59541568-59566955 bp (+) 59548010 Autosomal Recessive (1;3)
Autosomal Semidominant (2;12)
NLRP3 inflammasome: low response
24 UTSW Nos3 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) DSS: sensitive day 7
25 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) Body Weight - decreased
growth/size
26 UTSW Vldlr r26 19 27216484-27254231 bp (+) 27245654 Unknown vision/eye
27 UTSW Pik3r1 Rocket 13 101680563-101768217 bp (-) 101689444 Unknown (9;0) B1 cells - decreased
B1a cells - decreased
B1a cells in B1 cells - decreased
B1b cells - decreased
B1b cells in B1 cells - increased
B2 cells - increased
B220 MFI in B cells - decreased
NK T cells - decreased
28 UTSW
has photo
Gk5 sean 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (8;79)
Autosomal Semidominant (1;5)
skin/coat/nails
29 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (10;42) impaired response to dsDNA- type I IFN production by macrophages
30 UTSW Myo5a silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Unknown behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
31 UTSW
has photo
Oca2 snowflake 7 56239760-56536517 bp (+) 56324680 Unknown pigmentation
skin/coat/nails
32 UTSW
has video
Pcdh15 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive (1;2) behavior/neurological
hearing/vestibular/ear
33 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive (2;9) skin/coat/nails
34 UTSW
has video
Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) behavior/neurological
nervous system
35 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown lethality-embryonic/perinatal
pigmentation
skin/coat/nails
36 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive (7;34) adipose tissue
Body Weight - increased
Circadian defect: increase in circadian tau activity onset
growth/size
37 UTSW Ptpn6 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
Autosomal Semidominant (6;34)
B cells - decreased
B1 cells - decreased
CD44 MFI in CD8 - increased
central memory CD8 T cells in CD8 T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM MFI in B cells - decreased
IgM+ B cells - decreased
naive CD8 T cells in CD8 T cells - decreased
38 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
NK cells - decreased
39 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) pigmentation
skin/coat/nails
[records 1 to 39 of 39]