Log In|Sign Up
EN
A T-to-A transversion mutation at coding nucleotide 291 in the 1,456-bp cDNA results in a tyrosine (TAT) to a stop codon (TAA) alteration at amino acid 97 (p.Y97*) in the encoded protein. This mutation was absent in the C3H parental strain and all other strains observed. A decreased level of mutant transcript was expressed from this allele. (J:75395)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
