ENU-induced T to A transversion at base pair 54,493,181 (v38) on chromosome 11, or base pair 55,037 in the GenBank genomic region NC_000077 within intron 9, 12-base pairs from exon 10 (out of 18 total exons). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to not affect splicing. In case the mutation does affect splicing, the most likely aberrant splicing would result in skipping of the 202-base pair exon 10. The mutation would cause a frame-shifted protein product beginning after amino acid 305 of the protein, which is normally 1,165 amino acids in length, and termination after the inclusion of one aberrant amino acid. (J:272802)

Basic Information

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