Log In|Sign Up
EN
This spontaneous mutation involves an intronic G-to-A substitution, which creates a novel CAG splice acceptor site. Use of this ectopic acceptor creates a mis-spliced transcript with a 10 bp 5' extension of exon 14 that results in a frameshift and premature stop codon. (J:267160)
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
