ENU-induced T to C transition at base pair 122,180,862 (v38) on chromosome 7, or base pair 5,365 in the GenBank genomic region NC_000073 within the donor splice site of intron 7. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to not result in disruption of the splice donor site; native splicing sites might be used. In the event that the mutation affects splicing, the most likely aberrant splicing result will be skipping of the 102-base pair exon 7 (out of 22 total exons (shown below), resulting in an in-frame deletion of 34 amino acids beginning after amino acid 161 of the protein. (J:234237)

Basic Information

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