Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Htttm3Szi
Name:	huntingtin; targeted mutation 3, Scott Zeitlin
MGI ID:	MGI:3603606
Synonyms:	HdhdeltaQ
Gene:	Htt  Location: Chr5:34919084-35069878 bp, + strand  Genetic Position: Chr5, 17.92 cM
Alliance:	Htttm3Szi page

Germline Transmission:	Earliest citation of germline transmission: J:106763
Parent Cell Line:	W9.5/W95 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Inserted expressed sequence, Reporter) Mutation:    Insertion   Mutation details: A targeting vector was designed to delete the (CAG)2CAA(CAG)4 triplet repeat encoding 7 glutamines within exon 1. A FLAG epitope tag was included at the N-terminus of the coding sequence in exon 1 to follow expression. A floxed PGK-neo was inserted ~1.3 kb upstream of the transcriptional start site in the opposite transcription orientation.

View phenotypes and curated references for all genotypes (concatenated display).

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:	179 strains or lines available

Original:	J:106763 Clabough EB, et al., Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro. Hum Mol Genet. 2006 Feb 15;15(4):607-23
All:	2 reference(s)