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EN
ENU-induced C to A transversion at base pair 15,752,829 (v38) on chromosome 16, or base pair 115,387 in the GenBank genomic region NC_000082. The mutation corresponds to residue 6,998 in the mRNA sequence NM_011159 within exon 52 of 86 total exons.The mutation results in substitution of tyrosine 2,325 for a premature stop codon (Y2325*) in the DNA-PKCS protein. (J:264708)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
