Log In|Sign Up
EN
ENU-induced G to A transition at base pair 87,980,223 (v38) on chromosome 17, or base pair 5,174 in the GenBank genomic region NC_000083. The mutation corresponds to residue 389 in the mRNA sequence NM_010830 within exon 2 of 10 total exons. The mutation results in substitution of tryptophan (W) 97 for a premature stop codon (W97*) in the protein. (J:255208)
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
