Htt<tm1Mfc> Targeted Allele Detail MGI Mouse (MGI:2675580)

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Htt^tm1Mfc
Targeted Allele Detail

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

Summary

Symbol:	Htt^tm1Mfc
Name:	huntingtin; targeted mutation 1, Marie-Francoise Chesselet
MGI ID:	MGI:2675580
Synonyms:	140-CAG KI, CAG140, CAG140 KI, Hdh^Q140, Q140, Q175 KI, zQ175
Gene:	Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
Alliance:	Htt^tm1Mfc page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:85298
Parent Cell Line:	W9.5/W95 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation
description

Allele Type:		Targeted (Humanized sequence)
Mutation:		Insertion
		Mutation details: A 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 containing 140 CAG repeats. A floxed neo cassette was retained 1.3 kb upstream of exon 1. Western blot analysis of homozygous mutant cerebellum and forebrain tissues identified protein corresponding with the mouse/human hybrid protein. Similar levels of mutant and endogenous protein were observed. The repeat number is not stable and may expand or contract. (J:85298)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	1144396 assay results 20 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Htt Mutation:	178 strains or lines available

References

Original:	J:85298 Menalled LB, et al., Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J Comp Neurol. 2003 Oct 6;465(1):11-26
All:	155 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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