An expanded tract of 154 CAG repeats was engineered and knocked into exon 7 by replacing the PPPQQ codons with 154 glutamine (Q) codons. Additionally, a loxP site flanked neomycin resistance gene cassette was inserted into intron 6 and subsequently deleted in ES cells via Cre-mediated recombination. While equivalent transcript levels were identified in both mutant and wild-type mice by RT-PCR, reduced levels of mutant protein were observed in brain tissue. The authors attributed this apparent reduction in protein level to an increased difficulty of extraction or solubilization due to the mutant protein accumulating into nuclear aggregates as mice age. (J:77225)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Nucleotide repeat expansion
--
1
1
42

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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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