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Htttm1Mfc
Targeted Allele Detail
Nomenclature
Symbol: Htttm1Mfc
Name: huntingtin; targeted mutation 1, Marie-Francoise Chesselet
MGI ID: MGI:2675580
Synonyms: 140-CAG KI, CAG140, CAG140 KI, HdhQ140, Q140, Q175 KI, zQ175
Gene: Htt  Location: Chr5:34761740-34912534 bp, + strand  Genetic Position: Chr5, 17.92 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:85298
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Insertion
 
Mutation detailsA 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. (J:85298)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Htt Mutation:  36 strains or lines available
References
Original:  J:85298 Menalled LB, et al., Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J Comp Neurol. 2003 Oct 6;465(1):11-26
All:  95 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory