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EN
ENU-induced T to C transition at base pair 53,488,587 (v38) on chromosome 9, or base pair 48,230 in the GenBank genomic region NC_000075. The mutation corresponds to residue 4,731 in the mRNA sequence NM_007499 within exon 29 of 64 total exons. The mutation results in a leucine to proline substitution at amino acid 1,531 (L1531P) in the ATM protein. (J:265253)
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
