Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Atxn2tm1Plt
Name:	ataxin 2; targeted mutation 1, Stefan M Pulst
MGI ID:	MGI:3611805
Synonyms:	Sca2-, SCA2tm1SMP
Gene:	Atxn2  Location: Chr5:121849672-121954372 bp, + strand  Genetic Position: Chr5, 61.93 cM, cytoband F
Alliance:	Atxn2tm1Plt page

Germline Transmission:	Earliest citation of germline transmission: J:103805
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance gene replaced exon 1 by homologous recombination. Exon 1 contained the translation start site. RT-PCR failed to detect transcripts in mutants. Protein was not detected by Western blot or immunocytochemical analyses of various tissues. (J:103805)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Atxn2 Mutation:	87 strains or lines available

Original:	J:103805 Kiehl TR, et al., Generation and characterization of Sca2 (ataxin-2) knockout mice. Biochem Biophys Res Commun. 2006 Jan 6;339(1):17-24
All:	7 reference(s)