Atxn7^tm1Hzo
Targeted Allele Detail

Summary

• Symbol: Atxn7^tm1Hzo
• Name: ataxin 7; targeted mutation 1, Huda Y Zoghbi
• MGI ID: MGI:2651378
• Synonyms: Sca7^266Q, Sca7^266Q/5Q
• Gene: Atxn7 Location: Chr14:8362461-8508323 bp, - strand Genetic Position: Chr14, 7.08 cM
• Alliance: Atxn7^tm1Hzo page

Altered rod photoreceptor nuclear architecture in Tg(RHO-SCA7)R7EJman/0 and Atxn7^tm1Hzo/Atxn7⁺ mice, but not in Tg(RHO-SCA7)R7NJman/0 mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:82072
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• 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)

Disease models

Expression

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

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: 38 strains or lines available

References

• 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)