Homozygous mice for Atp8a2 spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. They grow much slower than their littermate controls and are first phenotypically recognizable at about 12 days of age, due to their smaller body size. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.
|Allele Name||wabbler lethal 3 Jackson|
|Gene Symbol and Name||Atp8a2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|
|Strain of Origin||CBA/J|
|Molecular Note||A 641 bp deletion starting at the tenth base pair of exon 30 leads to the deletion of part of exon 30 and the whole exon 31. Exon 32 contains a 10 bp duplication.|