ENU-induced A to G transition at base pair 9,971,585 (v38) on chromosome 8, or base pair 6,097 in the GenBank genomic region NC_000074. The mutation corresponds to residue 2,516 in the mRNA sequence NM_176953 within exon 2 of 2 total exons. The mutation results in a threonine to alanine substitution at amino acid 732 (T732A) in the LIG4 protein. (J:267692)

Basic Information

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

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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