Atxn3^tm1.2Hlp
Targeted Allele Detail

Summary

• Symbol: Atxn3^tm1.2Hlp
• Name: ataxin 3; targeted mutation 1.2, Henry L Paulson
• MGI ID: MGI:6385166
• Synonyms: Ki
• Gene: Atxn3 Location: Chr12:101885160-101924505 bp, - strand Genetic Position: Chr12, 51.32 cM
• Alliance: Atxn3^tm1.2Hlp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:244808
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: This allele is derived from Atxn3^tm1Hlp. 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. Atxn3^tm1Hlp 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. The duplicate was removed through subsequent flp-mediated recombination. This leaves an allele with one copy of the expanded repeat-containing exon 10 and, in intron 9, one loxP and one FRT site. (J:244808)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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: 49 strains or lines available

References

• Original: J:244808 Ramani B, et al., Comparison of spinocerebellar ataxia type 3 mouse models identifies early gain-of-function, cell-autonomous transcriptional changes in oligodendrocytes. Hum Mol Genet. 2017 Sep 01;26(17):3362-3374
• All: 2 reference(s)