Atp13a2^tm1Pjsch
Targeted Allele Detail

Summary

• Symbol: Atp13a2^tm1Pjsch
• Name: ATPase type 13A2; targeted mutation 1, Patrick Schultheis
• MGI ID: MGI:5472135
• Gene: Atp13a2 Location: Chr4:140714184-140734641 bp, + strand Genetic Position: Chr4, 73.29 cM
• Alliance: Atp13a2^tm1Pjsch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:194306
• Parent Cell Line: CMTI-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting vector contains a NEO cassette and polyA sequence that disrupt exons 12 through 15 and a portion of exon 16. Western blot analysis confirmed the absence of protein expression in the brain. (J:194306)

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 Atp13a2 Mutation: 60 strains or lines available

References

• Original: J:194306 Schultheis PJ, et al., Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited alpha-synuclein accumulation and age-dependent sensorimotor deficits. Hum Mol Genet. 2013 May 15;22(10):2067-82
• All: 6 reference(s)