Mice homozygous for Inpp4awbl 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.
The Inpp4awbl mutation arose on C57BL/6J-Aw 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.
|Gene Symbol and Name||Inpp4a, inositol polyphosphate-4-phosphatase, type I|
|Strain of Origin||C57BL/6J-Aw|
|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.|
When using the weeble mouse strain in a publication, please cite the originating article(s) and include JAX stock #004913 in your Materials and Methods section.