The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function.
Brodbeck J, Davies A, Courtney JM, Meir A, Balaguero N, Canti C, Moss FJ, Page KM, Pratt WS, Hunt SP, Barclay J, Rees M, Dolphin AC.
J Biol Chem. 2002 Mar 8;277(10):7684-93. Epub 2001 Dec 26.PMID: 11756448 [PubMed - indexed for MEDLINE]Related articlesFree article