Log In|Sign Up
EN
ENU-induced A to G transition at base pair 71,685,404 (v38) on chromosome 8, or base pair 9,022 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,708 in the mRNA sequence NM_010589 within exon 19 of 25 total exons. The mutation results in a glutamic acid to glycine substitution at position 833 (E833G) in the JAK3 protein. (J:272399)
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
