Phenotypic Mutations

16 mutations affecting 15 genes are currently displayed.
Mutations Mapped and Identified Based on Phenotype
[records 1 to 16 of 16] 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 Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (1;8) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
2 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
Autosomal Recessive (5;12)

Autosomal Semidominant (2;10) 		FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
3 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) FACS B 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
4 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
OVA-specific IgE - increased
total IgE level - increased
5 UTSW
has photo
 Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Unknown pigmentation
skin/coat/nails
6 UTSW
has photo
 Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) immune system
lethality-postnatal
skin/coat/nails
7 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) liver/biliary system
MTT Value of PECs - decreased
8 UTSW Cryaa L1n 17 31677933-31681722 bp (+) 31681025 Unknown vision/eye
9 UTSW Nlrp3 Nd1 11 59541568-59566955 bp (+) 59565974 Unknown (1;0) immune system
NALP3 inflammasome signaling defect
10 UTSW Nlrp3 Park6 11 59541568-59566955 bp (+) 59549036 Autosomal Dominant (2;4) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
11 UTSW
has photo
 Hr prune 14 70552212-70573548 bp (+) 70571429 Unknown skin/coat/nails
12 UTSW Fasl riogrande2 1 161780691-161788495 bp (-) 161787138 Autosomal Recessive (1;6) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
13 UTSW Tap1 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
Autosomal Recessive (6;35)

Autosomal Semidominant (1;6) 		FACS CD4:CD8 - increased
immune system
MCMV susceptibility
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS T cells - decreased
14 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown autoimmunity
immune system
15 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (15;106)
Autosomal Semidominant (1;4) 		FACS B cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
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
16 UTSW
has photo
 Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Unknown pigmentation
skin/coat/nails
[records 1 to 16 of 16]