Atxn7^tm2Hzo
Targeted Allele Detail

Summary

• Symbol: Atxn7^tm2Hzo
• Name: ataxin 7; targeted mutation 2, Huda Y Zoghbi
• MGI ID: MGI:6294768
• Synonyms: Sca7^delta117
• Gene: Atxn7 Location: Chr14:8362461-8508323 bp, - strand Genetic Position: Chr14, 7.08 cM
• Alliance: Atxn7^tm2Hzo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:101977
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: Exons 3 and 4 as well as flanking intron containing GC-rich region upstream of exon 3 (2.4 kb total) are replaced with a PGK-neomycin cassette via homologous recombination. This removed the first 117 amino acids of the encoded protein. A truncated protein is expressed at approximately 50% normal levels. (J:101977)

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: 36 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)