CByJ.B6-Inpp4a^wbl/FrkJ

Stock number: 004913
Product name: weeble
Research areas: Neurobiology Research

Description

This weeble spontaneous null mutation is characterized by ataxia.

Detailed description

Mice homozygous for Inpp4a^wbl exhibit small size, ataxia, and cell death in the cerebellum, hippocampus (CA1) and neocortex. Homozygotes die between two and five weeks probably from seizures and/or failure to thrive. Heterozgotes do not display an overt locomotor defect.

Development

The Inpp4a^wbl mutation arose on C57BL/6J-A^w in 1996 at The Jackson Laboratory. It was backcrossed to BALB/cByJ for ten generations in the laboratory of Dr. Wayne Frankel (Frk). Nystuen et al. describes the mutant phenotype as observed on the original background. According to a personal communication from the donating investigator, Dr. Frankel, the phenotype does not differ on this background. This strain was donated to The Jackson Laboratory in 2004.

Allele

Symbol: Inpp4a^wbl
Name: weeble
MGI accession ID: MGI:1934584
Generation method: Spontaneous
Marker symbol: Inpp4a
Marker name: inositol polyphosphate-4-phosphatase, type I
Marker synonyms: 107kDa; INPP4; TVAS1
Chromosome: 1
Strain of origin: C57BL/6J-A^w
Molecular note: The underlying mutation underlying this allele was determined to be a single nucleotide deletion (G at nucleotide position 744). The resulting frameshift creates a stop codon at amino acid position 263, truncating most of the 939 amino acid protein including the active site.