Log In|Sign Up
EN
ENU-induced T to A transition at base pair 15,717,801 (v38) on chromosome 16, or base pair 80,359 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 5,047 in the mRNA sequence NM_011159 within exon 38 of 86 total exons. The mutation results in a leucine to glutamine substitution at position 1,675 (L1675Q) in the DNA-PKCS protein. (J:272520)
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
