ENU mutagenesis induced a G-to-T transversion at base pair 15,831,282 (GRCm38) on chromosome 16, equivalent to base pair 193,417 in the GenBank genomic region NC_000082. The mutation corresponds to residue 11,142 in the NM_011159 mRNA sequence in exon 78 of 86 total exons. The mutation results in a glycine (G) to premature stop codon (*) substitution at amino acid 3707 (p.G3707*). The effect of the mutation in the mRNA and the encoded protein has not been determined. (J:204502)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
1

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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