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Htttm2Detl
Targeted Allele Detail
Summary
Symbol: Htttm2Detl
Name: huntingtin; targeted mutation 2, Peter J Detloff
MGI ID: MGI:2177757
Synonyms: CHL2, Hdh150Q, Hdh200Q, Hdh(CAG)150, HdhCAG150, HdhQ150, HdhQ150, HdhQ200
Gene: Htt  Location: Chr5:34919084-35069878 bp, + strand  Genetic Position: Chr5, 17.92 cM
Alliance: Htttm2Detl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67074
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprt1b-m3
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation details: This allele carries 150 CAG repeat units in the first exon of the endogenous gene. CAG repeat numbers in this gene are highly unstable. Mice carrying this allele may have more or fewer repeats than stated in the original description. (J:67074)
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: 12 assay results
4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 5 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 7 strains available      Cell Lines: 0 lines available
Carrying any Htt Mutation:  178 strains or lines available
References
Original:  J:67074 Lin CH, et al., Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum Mol Genet. 2001 Jan 15;10(2):137-44
All:  69 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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory