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Atxn3tm1Isch
Targeted Allele Detail
Nomenclature
Symbol: Atxn3tm1Isch
Name: ataxin 3; targeted mutation 1, Ina Schmitt
MGI ID: MGI:3833681
Gene: Atxn3  Location: Chr12:101918901-101958246 bp, - strand  Genetic Position: Chr12, 51.32 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:145048
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced part of exon 2 and all of exons 3-5. If splicing were to occur, the resulting mRNA would encode only the first 23 codons and an out of frame codon followed by a stop codon. Loss of protein expression was confirmed by immunoblot analysis. Many mice in this colony are heterozygous for a 365 kb deletion between positions 60.976 and 61.341 Mb of chromosome 6. Since this mutation is on chromosome 12, it should be possible to breed it away from the chromosome 6 deletion. (J:145048)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  32 strains or lines available
References
Original:  J:145048 Schmitt I, et al., Inactivation of the mouse Atxn3 (ataxin-3) gene increases protein ubiquitination. Biochem Biophys Res Commun. 2007 Oct 26;362(3):734-9
All:  2 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
03/21/2017
MGI 6.08
The Jackson Laboratory