Log In|Sign Up
EN
An expanded tract of 78 CAG repeats was engineered and knocked into exon 7 by replacing the PPPQQ codons with 78 glutamine (Q) codons and a loxP site flkanked neomycin resistance gene cassette was inserted into intron 6. Transient expression of Cre recombinase in correctly targeted ES cells removed the neo cassette. Expression of the mutant allele was verified by Western blot analysis of brain protein extracts. The CAG expansion mimics mutations found in human spinocerebellar ataxia type 1 patients with CAG expansions ranging from 40-83 repeats. (J:61398)
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
