title: Effects of carbonic anhydrase VIII deficiency on cerebellar gene expression profiles in the wdl mouse.
abstract: Recently, the waddles (wdl) mouse was identified as a carbonic anhydrase VIII (Car8) mutant. The mutation is associated with marked deficiency of Car8, an inositol triphosphate receptor 1-binding protein expressed at high levels in cerebellar Purkinje cells. To help unravel the molecular aberrations contributing to motor dysfunction in wdl mice, cerebellar gene expression profiles were examined in the mutants and their wild-type littermates. Genes involved in signaling, cell division, zinc ion-binding, synapse integrity and plasticity were downregulated in wdl mice. Several of the upregulated genes encode proteins that function in the Golgi apparatus which suggests that Car8 deficiency has important effects on synaptic vesicle formation and transport.
authors.affiliation: Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee 38163, United States.
authors.forename: Jian
authors.initials: J
authors.lastname: Yan
authors.forename: Yan
authors.initials: Y
authors.lastname: Jiao
authors.forename: Feng
authors.initials: F
authors.lastname: Jiao
authors.forename: John
authors.initials: J
authors.lastname: Stuart
authors.forename: Leah Rae
authors.initials: LR
authors.lastname: Donahue
authors.forename: Wesley G
authors.initials: WG
authors.lastname: Beamer
authors.forename: Xinmin
authors.initials: X
authors.lastname: Li
authors.forename: Bruce A
authors.initials: BA
authors.lastname: Roe
authors.forename: Mark S
authors.initials: MS
authors.lastname: LeDoux
authors.forename: Weikuan
authors.initials: W
authors.lastname: Gu
mesh_terms: D000818:Animals; D024403:Carbonic Anhydrase III / Q000172:deficiency*; D002531:Cerebellum / Q000378:metabolism*; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation / Q000502:physiology*; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D012333:RNA, Messenger; D024403:Carbonic Anhydrase III