Htt<tm7Mem> Targeted Allele Detail MGI Mouse (MGI:3697906)

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Htt^tm7Mem
Targeted Allele Detail

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

Summary

Symbol:	Htt^tm7Mem
Name:	huntingtin; targeted mutation 7, Marcy E MacDonald
MGI ID:	MGI:3697906
Synonyms:	Hdh^neoQ50
Gene:	Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
Alliance:	Htt^tm7Mem page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:44391
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:		Targeted (Hypomorph)
Mutation:		Insertion
		Mutation details: This allele carries 48 CAG repeat units, with 50 glutamines, in the first exon of the endogeous gene and a floxed neo cassette in the promoter. It is a hypomorphic allele, expressing reduced levels of the mutant protein. (J:44391)

Phenotypes

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

Disease models

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:	178 strains or lines available

References

Original:	J:44391 White JK, et al., Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec;17(4):404-10
All:	5 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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