ENU-induced G to A transition at base pair 97,101,478 (v38) on chromosome 11, or base pair 13,854 in the GenBank genomic region NC_000077 within the donor splice site of intron 3. 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 122-nucleotide exon 3 (out of 6 total exons), resulting in a frame-shifted protein product beginning after amino acid 214 of the protein and premature termination after the inclusion of 20 aberrant amino acids. (J:267478)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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