Phenotypic Mutations

18 mutations affecting 18 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 18 of 18] per page Full List Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?

and
and
1 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
Autosomal Semidominant (1;4)
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
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
total IgE level - decreased
2 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
3 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
Autosomal Semidominant (3;14)
Body Weight (Male) - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
4 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
Autosomal Semidominant (1;5)
cellular phenotype
FACS B cells - increased
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
hematopoietic system
immune system
5 UTSW Pde6d costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (3;16)
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
6 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) immune system
lethality-postnatal
skin/coat/nails
7 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
DSS: sensitive day 10
DSS: sensitive day 7
8 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (9;97)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
9 UTSW Irf4 Honey2 13 30749226-30766927 bp (+) 30761490 Autosomal Dominant (1;7)
Autosomal Recessive (1;13)

Autosomal Semidominant (2;18)
FACS B1 cells - increased
FACS IgM MFI - increased
immune system
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 Itgam invisible 7 128062640-128128160 bp (+) 128070703 Autosomal Recessive (4;75)
Autosomal Semidominant (1;7)
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
immune system
11 UTSW Unc13d jinx 11 116062095-116077961 bp (-) 116073423 Unknown (1;0) DSS: sensitive day 7
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
12 UTSW Irf9 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (2;11)
Autosomal Semidominant (4;20)
dsDNA induced type I IFN production - increased
IgE response to a Cysteine Protease (Papain) - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
13 UTSW Myo5a nut 9 75071015-75223688 bp (+) Unknown pigmentation
skin/coat/nails
14 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
15 UTSW
has photo
Dtnbp1 salt_and_pepper 13 44922079-45002096 bp (-) 44941438 Unknown (2;0) immune system
MCMV susceptibility
NK cell response - decreased
pigmentation
skin/coat/nails
16 UTSW
has photo
Egfr set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 30 min GTT hypoglycemic (male)
skin/coat/nails
17 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10) behavior/neurological
immune system
OVA-specific IgE after 2nd OVA/Alum - increased
18 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) Circadian rhythm
Circadian Tau Chi Squared Periodogram - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK T cells - increased
immune system
innate fear - decreased
nervous system
pigmentation
skin/coat/nails
[records 1 to 18 of 18]