Phenotypic Mutations

33 mutations affecting 33 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 33 of 33] 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 none of
1 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
2 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
3 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1;0) pigmentation
skin/coat/nails
4 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) B:T cells - increased
CD4:CD8 - 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
CD44+ CD8 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
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
5 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
6 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) hearing/vestibular/ear
7 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) behavior/neurological
growth/size
life span-post-weaning/aging
nervous system
8 UTSW Ppp3cb Eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
Autosomal Recessive (4;39)

Autosomal Semidominant (4;18)
B:T cells - increased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
9 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
B1b cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
10 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Unknown endocrine/exocrine gland
immune system
skin/coat/nails
11 UTSW Naip5 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) Nlrc4 inflammasome: low response
12 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
13 UTSW Trp53bp1 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8;62) 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
naive CD8 T cells in CD8 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
14 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
RVFV susceptibility
15 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
16 UTSW Lyn Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)

Autosomal Semidominant (5;26)
B1 cells - increased
CD11c+ DCs - increased
CD4+ T cells - decreased
CD8+ T cells - decreased
macrophages - increased
NK cells - decreased
T cells - decreased
17 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Unknown pigmentation
skin/coat/nails
18 UTSW Tnf Panr1 17 35199381-35202007 bp (-) 35200204 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
19 UTSW
has photo
Fgf5 porcupine 5 98254184-98277030 bp (+) 98254746 Unknown skin/coat/nails
20 UTSW Rac2 potter 15 78559169-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
Autosomal Semidominant (2;11)
B cells - decreased
B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
IgM+ B cells - decreased
neutrophils - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
21 UTSW Smtn runtish 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive (1;6) Body Weight - decreased
growth/size
22 UTSW Muc2 Schlendrian 7 141690340-141754693 bp (+) 141695682 Unknown (1;0) DSS: sensitive
immune system
23 UTSW Prkdc screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (23;272) B cells - decreased
B1 cells - increased
B1a cells - decreased
B2 cells - decreased
B220 MFI in B cells - decreased
CD4:CD8 - increased
CD4+ T cells - decreased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD4 T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
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
24 UTSW Myo5a silver_decerebrate 9 75071015-75223688 bp (+) 75164195 Unknown behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
25 UTSW Gimap5 sphinx 6 48746197-48754210 bp (+) 48752609 Unknown (2;0) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
CTL killing - decreased
hematopoietic system
immune system
inflammatory bowel disease phenotype
lethality-postnatal
life span-post-weaning/aging
liver/biliary system
MCMV susceptibility
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
26 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (9;55)

Autosomal Semidominant (4;19)
B1 cells - increased
B1b cells in B1 cells - decreased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD8 T cells - increased
CD8+ T cells - increased
central memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - decreased
macrophages - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
27 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown CD4+ T cells - decreased
immune system
28 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
29 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10) behavior/neurological
30 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown behavior/neurological
nervous system
31 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) hematopoietic system
immune system
32 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (9;108)

Autosomal Semidominant (4;47)
B:T cells - decreased
B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
effector memory CD8 T cells in CD8 T cells - decreased
IgM MFI in B cells - increased
IgM+ B cells - decreased
NK T cells - increased
T cells - increased
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
33 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown pigmentation
skin/coat/nails
[records 1 to 33 of 33]