Log In|Sign Up
EN
This mutation, discovered by its coat color phenotype in G3 progeny of an ENU-treated mouse, has been identified as an A-to-T transversion that converts an arginine codon at amino acid position 54 to a nonsense codon (R54Ter). The RAB27A protein is not detected by immunoblot analysis of leukocyte extracts from homozygous mutant mice. (J:114299)
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
