Log In|Sign Up
EN
Two nonsynonymous SNPs (A>G and C>T) result in amino acid substitutions (p.R78G and p.R242C). Expression of the encoded protein is abolished in this strain. These substitutions are also found in the RIII/Imr, DDD/Sgn and KK/Sgn strains. (J:159317)
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
