Version: 8.0.0
Date: Tue Jan 28 2025
Htttm1Mfc
MGI:2675580
Allele of Htt
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Htttm1Mfc

Species
Mus musculus
Symbol
Htttm1Mfc
Category
allele
Allele of gene
Htt
Transgenic Constructs
None
Synonyms
  • 140-CAG KI
  • CAG140
Description
A fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence containing 140 CAG repeats. A floxed neo cassette was retained 1.3 kb upstream of exon 1. Western blot analysis of homozygous mutant cerebellum and forebrain tissues identified protein corresponding with the mouse/human hybrid protein. Similar levels of mutant and endogenous protein were observed. The repeat number is not stable and may expand or contract.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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