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Targeted Allele Detail
Symbol: Atxn7tm1Hzo
Name: ataxin 7; targeted mutation 1, Huda Y Zoghbi
MGI ID: MGI:2651378
Synonyms: Sca7266Q, Sca7266Q/5Q
Gene: Atxn7  Location: Chr14:13961440-14107302 bp, + strand  Genetic Position: Chr14, 7.08 cM
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-Hprtb-m2
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsThe 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).
Disease models
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
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:  26 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:  10 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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last database update
MGI 6.14
The Jackson Laboratory