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Allele : Atxn7<tm1Hzo> ataxin 7; targeted mutation 1, Huda Y Zoghbi

Primary Identifier  MGI:2651378 Allele Type  Targeted
Gene  Atxn7 Transmission  Germline
Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2> Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • Sca7<266Q/5Q>,
  • Sca7<266Q>,
  • Sca7<266Q>,
  • Sca7<266Q/5Q>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

20 Publication categories