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
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
2 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Semidominant  decrease in B1 cells
decrease in B1a cells in B1 cells
increase in B1b cells
3 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
4 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
5 UTSW
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Autosomal Recessive  pigmentation
skin/coat/nails
6 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Autosomal Recessive  immune system
skin/coat/nails
7 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown  liver/biliary system
MTT value of PECs: decreased
8 UTSW Cryaa L1n 17 31677933-31681722 bp (+) 31681025 Autosomal Semidominant  vision/eye
9 UTSW Nlrp3 Nd1 11 59541568-59566955 bp (+) 59565974 Autosomal Semidominant  immune system
NALP3 inflammasome signaling defect
10 UTSW Nlrp3 Park6 11 59541568-59566955 bp (+) 59549036 Autosomal Dominant  NLRP3 inflammasome: low response
11 UTSW
has photo
Hr prune 14 70552212-70573548 bp (+) 70571429 Autosomal Recessive  skin/coat/nails
12 UTSW Fasl riogrande2 1 161780691-161788495 bp (-) 161787138 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
13 UTSW Tap1 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Recessive  MCMV susceptibility
post-MCMV decrease in CD44+ CD8 T cells
post-MCMV decrease in CD44+ T cells
post-MCMV decrease in CD8+ T cells
post-MCMV decrease in IgM+ B cells
14 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Autosomal Recessive  autoimmunity
immune system
15 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in CD4+ T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
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 Autosomal Recessive  pigmentation
skin/coat/nails
[records 1 to 16 of 16]