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Atxn1tm2Hzo
Targeted Allele Detail
Nomenclature
Symbol: Atxn1tm2Hzo
Name: ataxin 1; targeted mutation 2, Huda Y Zoghbi
MGI ID: MGI:2181805
Synonyms: Atxn1tm1Zuk, Sca1-, Sca1m1
Gene: Atxn1  Location: Chr13:45549758-45964991 bp, - strand  Genetic Position: Chr13, 21.98 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:48508
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 8 was replaced with a PGK-hprt cassette via homologous recombination resulting in the deletion of amino acids 1-616. Western blot analysis of brain extracts from homozygous mutant animals using an antibody directed against the C-terminus of the protein did not detect protein expression thus verifying the null allele. (J:48508)
Phenotypes
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View phenotypes 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: 1 strain available      Cell Lines: 0 lines available
Carrying any Atxn1 Mutation:  15 strains or lines available
References
Original:  J:48508 Matilla A, et al., Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci. 1998 Jul 15;18(14):5508-16
All:  8 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
09/20/2016
MGI 6.05
The Jackson Laboratory