Aptx^tm1Pmc
Targeted Allele Detail

Summary

• Symbol: Aptx^tm1Pmc
• Name: aprataxin; targeted mutation 1, Peter J McKinnon
• MGI ID: MGI:3686875
• Synonyms: Aptx^-
• Gene: Aptx Location: Chr4:40682382-40703194 bp, - strand Genetic Position: Chr4, 20.46 cM, cytoband B1
• Alliance: Aptx^tm1Pmc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:113297
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The two exons encompassing the HIT domain were deleted using cre mediated recombination. The deletion resulted in a frame-shift that caused the loss of the C-terminal 181 amino acids including the histidine triad and zinc finger domains. The mutant transcript was found to be expressed in various tissues, including brain, by Northern blot analysis. (J:113297)

Disease models

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 Aptx Mutation: 22 strains or lines available

References

• Original: J:113297 Ahel I, et al., The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature. 2006 Oct 12;443(7112):713-6
• All: 7 reference(s)