ENU-induced G to A transition at base pair 66,758,006 (v38) on chromosome 15, or base pair 87,253 in the GenBank genomic region NC_000081 within the donor splice site of intron 36 (1-base pair from exon 36 [out of 48 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 135-base pair exon 36. The mutation would cause an in-frame deletion of 45 amino acids after amino acid 2,085; the wild-type protein is normally 2,766 amino acids in length. (J:272522)

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top