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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:48508
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
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)
View phenotypes and curated references for all genotypes (concatenated display).
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 Atxn1 Mutation:  30 strains or lines available
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
MGI 6.22
The Jackson Laboratory