Atxn3^tm1Isch
Targeted Allele Detail

Summary

• Symbol: Atxn3^tm1Isch
• Name: ataxin 3; targeted mutation 1, Ina Schmitt
• MGI ID: MGI:3833681
• Gene: Atxn3 Location: Chr12:101885160-101924505 bp, - strand Genetic Position: Chr12, 51.32 cM
• Alliance: Atxn3^tm1Isch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:145048
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced part of exon 2 and all of exons 3-5. If splicing were to occur, the resulting mRNA would encode only the first 23 codons and an out of frame codon followed by a stop codon. Loss of protein expression was confirmed by immunoblot analysis. Many mice in this colony are heterozygous for a 365 kb deletion between positions 60.976 and 61.341 Mb of chromosome 6. Since this mutation is on chromosome 12, it should be possible to breed it away from the chromosome 6 deletion. (J:145048)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Atxn3 Mutation: 48 strains or lines available

References

• Original: J:145048 Schmitt I, et al., Inactivation of the mouse Atxn3 (ataxin-3) gene increases protein ubiquitination. Biochem Biophys Res Commun. 2007 Oct 26;362(3):734-9
• All: 3 reference(s)