ENU-induced T to C transition at base pair 15,795,094 (v38) on chromosome 16, or base pair 157,652 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 9,538 in the mRNA sequence NM_011159 within exon 68 of 86 total exons. The mutation results in a valine to alanine substitution at position 3,172 (V3172A) in the DNA-PKCS protein. (J:272521)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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