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Htttm3Mem
Targeted Allele Detail
Summary
Symbol: Htttm3Mem
Name: huntingtin; targeted mutation 3, Marcy E MacDonald
MGI ID: MGI:1861699
Synonyms: HdhQ50
Gene: Htt  Location: Chr5:34919084-35069878 bp, + strand  Genetic Position: Chr5, 17.92 cM
Alliance: Htttm3Mem page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:44391
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Insertion
 
Mutation detailsThis allele carries 48 CAG repeat units, with 50 glutamines, in the first exon of the endogenous gene. It is a derivative from Hdhtm7Mem in which the neo cassette has been removed by cre-mediated recombination and expresses normal levels of the mutant protein. (J:44391)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 8 RNA-Seq or microarray experiment(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Htt Mutation:  178 strains or lines available
References
Original:  J:44391 White JK, et al., Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec;17(4):404-10
All:  13 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
11/05/2024
MGI 6.24
The Jackson Laboratory