Htt^tm1Mfc
Targeted Allele Detail

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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Htt^tm1Mfc/Htt^tm1Mfc	involves: 129S1/Sv * C57BL/6
cx2	Htt^tm1Mfc/Htt^+ Ppargc1a^tm1Dpk/Ppargc1a^+	involves: 129S1/Sv * 129X1/SvJ

Phenotypes:

Affected Systems	hm1	cx2
show or hide all annotated terms
behavior/neurological	√	√
increased grooming behavior	√
abnormal motor capabilities/coordination/movement	√
impaired coordination		√
abnormal locomotor activation	√
abnormal gait	√
short stride length	√
decreased vertical activity	√
decreased locomotor activity	√
hyperactivity	√
increased vertical activity	√
increased locomotor activity	√
growth/size/body	√
decreased body weight	√
nervous system	√	√
abnormal brain morphology	√
abnormal striatum morphology		√
neuron degeneration		√
taste/olfaction	√
abnormal olfactory system morphology	√

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

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	hm1
Huntington's disease IDs Huntington's disease       DOID:12858 ICD10CM:G10 ICD9CM_2006:333.4 ICD9CM:333.4 KEGG:05016 MESH:D006816 NCI:C82342 OMIM:143100 UMLS_CUI:C0020179 Close	√

Expression

In Mice Carrying this Mutation:	1144396 assay results 40 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: 159 reference(s)