Log In|Sign Up
EN
A G to T transversion is found at bp 298 counting from the start of the first coding exon (G298T). This is the 5' splice donor site at the 3' end of exon 1. This causes the use of a cryptic splice donor site 72 bp up stream at position 226 and leads to an in frame 24 amino acid deletion in the protein (amino acids 76-100) eliminating a putative cyclin/CDK interaction domain. (J:86161, J:125220)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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
