Log In|Sign Up
EN
A PGK-Neo cassette was inserted into exon 5 by homologous recombination to introduce a premature "TAG" stop codon and produce a truncated protein of 416 amino acids with an intact N-terminus but lacking both the poly-Q stretch and following C-terminal peptides. Protein was detected at a level similar to that of the wild-type protein (1,175 amino acids) in brain samples. (J:152709)
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
