Log In|Sign Up
EN
ENU-induced T to A transversion at base pair 20,582,939 (v38) on chromosome 18, or base pair 24,866 in the GenBank genomic region NC_000084 encoding Dsg2. The mutation corresponds to residue 1,057 in the mRNA sequence NM_007883 within exon 8 of 15 total exons. The mutation results in substitution of tyrosine 282 for a premature stop codon (Y282*) in the DSG2 protein. (J:271976)
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
