ENU-induced T to A transversion at base pair 20,595,951 (v38) on chromosome 18, or base pair 37,878 in the GenBank genomic region NC_000084 within intron 12 (9-base pairs upstream of exon 13 [out of 15 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 the use of a cryptic site in exon 13. The mutation would cause a 2-base pair deletion of exon 13, causing a frame-shifted protein product beginning after amino acid 632 of the protein, which is normally 1,122 amino acids in length, and termination after the inclusion of 33 aberrant amino acids. (J:271977)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
9
--

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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