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Htttm2Msl
Targeted Allele Detail
Nomenclature
Symbol: Htttm2Msl
Name: huntingtin; targeted mutation 2, Michael S Levine
MGI ID: MGI:2388032
Synonyms: CAG94, HdhQ94
Gene: Htt  Location: Chr5:34761740-34912534 bp, + strand  Genetic Position: Chr5, 17.92 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:76018
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsA fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence obtained from a juvenile HD lymphoblastoid cell line. Though the initial construct was believed to contain 94 CAG repeats, sequence analysis identified an A to G point mutation in the 42nd CAG repeat, resulting in an arginine encoding triplet. Western blot analysis of heterozygous mice verified the expression of the mutant protein. (J:76018)
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:76018 Levine MS, et al., Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease. J Neurosci Res. 1999 Nov 15;58(4):515-32
All:  4 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