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Htttm1.1Pfs
Targeted Allele Detail
Summary
Symbol: Htttm1.1Pfs
Name: huntingtin; targeted mutation 1.1, Peggy F Shelbourne
MGI ID: MGI:2177751
Synonyms: HDH4/Q80
Gene: Htt  Location: Chr5:34919084-35069878 bp, + strand  Genetic Position: Chr5, 17.92 cM
Alliance: Htttm1.1Pfs page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:54906
Parent Cell Line:  RF8 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation details: This allele carries 80 CAG repeat units in the first exon of the endogenous gene. A loxP flanked neomycin selection cassette in the first intron was removed by Cre mediated recombination in the final allele. (J:54906)
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: 13 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 1 anatomical structure(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:54906 Shelbourne PF, et al., A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet. 1999 May;8(5):763-74
All:  11 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