Atxn3^tm1Hlp

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Species

Mus musculus

Symbol

Atxn3^tm1Hlp

Category

allele

Allele of gene

Atxn3

Transgenic Constructs

None

Synonyms

• Atxn3Q82
• dupKi

Show All 3

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations