ENU-induced T to A transversion at base pair 79,729,113 (v38) on chromosome 10, or base pair 12,480 in the GenBank genomic region NC_000076 within the splice donor site of intron 4 (2-base pairs from exon 4 out of 8 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 splice site in intron 4. The resulting transcript would have a 90-base pair insertion of intron 4, which would cause an in-frame insertion of 30 aberrant amino acids after amino acid 452 of the protein (which is normally 863 amino acids long). (J:274859)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
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:
Show/Hide columns
Phenotypes

References Literature

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