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Aptxtm1Pmc
Targeted Allele Detail
Nomenclature
Symbol: Aptxtm1Pmc
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:113297
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThe 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)
Phenotypes
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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 Aptx Mutation:  14 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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory