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Htttm8Mem
Targeted Allele Detail
Nomenclature
Symbol: Htttm8Mem
Name: huntingtin; targeted mutation 8, Marcy E MacDonald
MGI ID: MGI:3697907
Synonyms: HdhneoQ111
Gene: Htt  Location: Chr5:34761740-34912534 bp, + strand  Genetic Position: Chr5, 17.92 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:72915
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Nucleotide repeat expansion
 
Mutation detailsThis allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene and a floxed neo cassette in the promoter. It is a hypomorphic allele, expressing reduced levels of the mutant protein. (J:52440, J:72915)
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: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Htt Mutation:  36 strains or lines available
References
Original:  J:72915 Auerbach W, et al., The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum Mol Genet. 2001 Oct 15;10(22):2515-23
All:  6 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