Log In|Sign Up
EN
A G-to-A transition mutation at the boundary between intron 1 and exon 2 disrupts pre-mRNA splicing by eliminating the AG motif at the 3' splice acceptor site. The aberrant transcript expressed by this allele has a 65 base deletion of the 5' part of exon 2 and is missing the translational start codon. (J:43337, J:91385)
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
