in homozygous ataxic mice, who are recessive for both the tottering and leaner genes. These mice present with mutations in the alpha1A subunit of their P/Q type channels. Mutations in these channels result in deficiencies within the cerebellar Purkinje cells that dramatically reduce the channels current density. The tottering mutations within mice result from a missense mutation and causes delayed-onset of seizures and ataxia. The tottering mutation substitutes a single proline instead of a leucine within the P-region of the channel. The P-region is responsible for the formation of the ion channel pore. The leaner mutation, which results in more severe symptoms than the tottering mutation, has been shown to result from a single nucleotide substitution that causes splicing failures within the channels open reading frame. Mutations in the pore forming subunit of P type calcium channels cause ataxia, severely altered respiration, by decreasing minute ventilation and producing symptoms associated with atelectasis. Mutations to CaV2.1 have also been shown to affect transmission within the pre-Bötzinger Complex, a cluster of interneurons in the brainstem which help to regulate breathing. See also Cav2.1 voltage-dependent calcium channel References Ion channels Electrophysiology Integral membrane proteins Calcium channels