ENU mutagenesis induced a G to A transition at base pair 80,288,217 (v38) on chromosome 9, or base pair 123,242 in the GenBank genomic region NC_000075 within the donor splice site of intron 26. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 209-nucleotide exon 26 (out of 33 total exons), resulting in a frame-shift and coding of two aberrant amino acids followed by a premature stop codon after amino acid 888. (J:217799)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
7
--

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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