Atxn3^tm1Hlp
Targeted Allele Detail

Summary

• Symbol: Atxn3^tm1Hlp
• Name: ataxin 3; targeted mutation 1, Henry L Paulson
• MGI ID: MGI:5493478
• Synonyms: Atxn3Q82, dupKi, SCA3
• Gene: Atxn3 Location: Chr12:101885160-101924505 bp, - strand Genetic Position: Chr12, 51.32 cM
• Alliance: Atxn3^tm1Hlp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:197601
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Duplication, Insertion
• Mutation details: An expanded CAG trinucleotide repeat, (CAG)2(CAAAAG)(CAG)82 which encodes 85 glutamines interrupted by a lysine at the fourth residue [Q(3)KQ(82)], was inserted into exon 10. An FRT flanked PGK-neo cassette was removed via flp-mediated recombination. PCR confirmed insertion of the expansion and Western blot analysis confirmed protein expression in the brain, heart, liver, muscle and spleen. CAG repeat length sizing in offspring of heterozygotes shows a modest tendency toward CAG repeat contraction upon maternal transmission of the mutant allele and stabilization or mild expansion upon paternal transmission. The allele also contains a tandem duplicate of the targeting vector which contains a 3' part of intron 9, the CAG repeat expansion-containing exon 10 and a 5' part of intron 10. (J:197601, J:219232)

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 Atxn3 Mutation: 48 strains or lines available

Notes

ES cell line = Bruce4.G9, a subline of Bruce 4 (B6.Cg-Thy1)

References

• Original: J:197601 Paulson HL, Knock-in of an expanded CAG repeat into the Atxn3 gene. MGI Direct Data Submission. 2013 Jul
• All: 3 reference(s)