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

Symbol: Atxn7tm1Hzo Name: ataxin 7; targeted mutation 1, Huda Y Zoghbi MGI ID: MGI:2651378 Synonyms: Sca7266Q, Sca7266Q/5Q Gene: Atxn7  Location: Chr14:8362461-8508323 bp, - strand  Genetic Position: Chr14, 7.08 cM Alliance: Atxn7tm1Hzo page

Altered rod photoreceptor nuclear architecture in Tg(RHO-SCA7)R7EJman/0 and Atxn7tm1Hzo/Atxn7+ mice, but not in Tg(RHO-SCA7)R7NJman/0 mice Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:82072
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted Mutation:    Insertion   Mutation details: The polyglutamine tract in exon 3 was expanded to 266 CAG repeats via homologous recombination. A single loxP site remained downstream of exon 4. While levels of mutant and wild-type transcript were similar in heterozygous mutant mice, immunostaining of brain tissue indicated increased levels mutant protein. The number of CAG repeats did not decrease by more than 10 (30 nt) in the two lines initially studied. Naturallly occurring contracted mutations of the 266Q tract have been observed, resulting in 230 and 100 CAG repeats. (J:82072, J:179021)

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

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Atxn7 Mutation:	38 strains or lines available

Original:	J:82072 Yoo SY, et al., SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 6;37(3):383-401
All:	15 reference(s)