ENU mutagenesis induced a a C to A transversion at base pair 10,741,508 (v38) on chromosome 10, or base pair 340,870 in the GenBank genomic region NC_000076. The mutation corresponds to residue 1,931 in the NM_016976 mRNA sequence in exon 6 of 9 total exons and residue 1,931 in the NM_001114333 mRNA sequence in exon 6 of 10 total exons. The mutation results in substitution of tyrosine 510 (Y510) for a premature stop codon (Y510*) in all isoforms. (J:224657)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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