B6.Cg-Atp2b2^lilo/JtJ

Stock number: 016172
Strain synonyms: lilo
Research areas: Neurobiology Research, Sensorineural Research

Description

Mice homozygous for this Atp2b2 (ATPase, Ca++ transporting, plasma membrane 2) mutation show severe ataxia. Both homozygotes and heterozygotes have a hearing defect.

Detailed description

Exon 12 was spontaneously deleted in these Atp2b2 (ATPase, Ca++ transporting, plasma membrane 2) mutant mice, creating a premature stop codon. Homozygotes show severe ataxia that is evident from approximately postnatal day 14 (P14). Both homozygotes and heterozygotes have a hearing defect.

Development

A spontaneous deletion of exon 12 resulted in a frameshift that created a premature stop codon. The mutation arose on a C3B6F2 hybrid background. This strain was backcrossed to C57BL/6 for 10 generations by the donating laboratory.

Allele

Symbol: Atp2b2^lilo
Name: lilop
MGI accession ID: MGI:5426353
Generation method: Spontaneous
Marker symbol: Atp2b2
Marker name: ATPase, Ca++ transporting, plasma membrane 2
Marker synonyms: D6Abb2e; DFNA82; Gena300; jog; PMCA2; PMCA2a; PMCA2i; Tmy; wms
Chromosome: 6
Strain of origin: (C3H x C57BL/6)F2
Molecular note: A spontaneous deletion of exon 12 resulted in a frameshift that created a premature stop codon.