Atxn1^tm2Hzo
Targeted Allele Detail

Summary

• Symbol: Atxn1^tm2Hzo
• Name: ataxin 1; targeted mutation 2, Huda Y Zoghbi
• MGI ID: MGI:2181805
• Synonyms: Atxn1^tm1Zuk, Sca1^-, Sca1^m1
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^tm2Hzo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:48508
• Parent Cell Line: AB2.1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 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)

Disease models

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: 20 reference(s)