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Atxn1tm2Hzo
Targeted Allele Detail
Summary
Symbol: Atxn1tm2Hzo
Name: ataxin 1; targeted mutation 2, Huda Y Zoghbi
MGI ID: MGI:2181805
Synonyms: Atxn1tm1Zuk, Sca1-, Sca1m1
Gene: Atxn1  Location: Chr13:45703231-46118467 bp, - strand  Genetic Position: Chr13, 21.98 cM
Alliance: Atxn1tm2Hzo page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:48508
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-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 and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
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:  50 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:  19 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory