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Htttm2.1Pfs
Targeted Allele Detail
Nomenclature
Symbol: Htttm2.1Pfs
Name: huntingtin; targeted mutation 2.1, Peggy F Shelbourne
MGI ID: MGI:2177753
Synonyms: Hdh6/Q72
Gene: Htt  Location: Chr5:34761740-34912534 bp, + strand  Genetic Position: Chr5, 17.92 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:54906
Parent Cell Line:  JM-1 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide repeat expansion
 
Mutation detailsThis allele carries 72 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 Structures Affected by this Mutation: 1 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: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:  7 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
10/15/2019
MGI 6.14
The Jackson Laboratory