Htt<tm4Mem> Targeted Allele Detail MGI Mouse (MGI:1861934)

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Htt^tm4Mem
Targeted Allele Detail

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

Summary

Symbol:	Htt^tm4Mem
Name:	huntingtin; targeted mutation 4, Marcy E MacDonald
MGI ID:	MGI:1861934
Synonyms:	Hdh^Q92, Hdh^tm4Mem
Gene:	Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
Alliance:	Htt^tm4Mem page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:52440
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:		Targeted (Humanized sequence)
Mutation:		Insertion
		Mutation details: This allele carries 90 CAG repeat units, with 92 glutamines, in the first exon of the endogenous gene. (J:52440)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	21 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:52440 Wheeler VC, et al., Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet. 1999 Jan;8(1):115-22
All:	15 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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