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EN
ENU-induced T to C transition at base pair 15,808,058 (v38) on chromosome 16, or base pair 170,616 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 9,970 in the mRNA sequence NM_011159 within exon 71 of 86 total exons. The mutation results in a leucine to serine substitution at position 3,316 (L3316S) in the DNA-PKCS protein. (J:272441)
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：
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References Literature
Title
PMID
Journal
Year
IF
