Log In|Sign Up
EN
ENU mutagenesis induced a a T to C transition at base pair 22,666,020 (v38) on chromosome 8, or base pair 40,566 in the GenBank genomic region NC_000074, corresponding to residue 1,841 in the mRNA sequence NM_001159774 (variant 1) within exon 17 of 22 total exons and to residue 1,841 in the mRNA sequence NM_010546 (variant 2) within exon 17 of 21 total exons. The mutation results in an leucine (L) to proline (P) substitution at position 570 (L570P) in both isoforms of the protein. (J:225271)
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
