Log In|Sign Up
EN
A G-to-A substitution at the first nucleotide of intron 8 eliminates exon 8 splice donor site G-GT by changing it G-AT. This results in aberrantly spliced transcripts that do not encode a functional protein. Western blot analysis demonstrated a lack of encoded protein in a number of tissues tested when compared to controls, and activity assays fail to detect active protein in null tissue extracts. (J:44612)
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
