title: Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development.
abstract: Periphilin is involved in multiple processes in vivo. To explore its physiological role from an organismic perspective, we generated mice with a gene trap insertion in the periphilin-1 gene. Based on beta-gal reporter activity, a widespread periphilin expression was evident, especially in the developing somites and limbs, the embryonic nervous system, and the adult brain. In accordance with this broad expression, homozygous deficiency of periphilin was lethal in early embryogenesis. Mice with a heterozygous deficiency did not show any abnormalities of brain morphology and function, neither histologically nor regarding the transcriptome. Interestingly, the reduction of the periphilin-1 gene dosage was compensated by an increased expression of the remaining wild-type allele in the brain. These results point to an indispensable function of periphilin during murine development and an important role in the nervous system, reflected by a strong and tightly regulated expression in the murine brain.
authors.affiliation: Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany. anne.soehn@med.uni-tuebingen.de
authors.forename: Anne S
authors.initials: AS
authors.lastname: Soehn
authors.forename: Thu-Trang
authors.initials: TT
authors.lastname: Pham
authors.forename: Karin
authors.initials: K
authors.lastname: Schaeferhoff
authors.forename: Thomas
authors.initials: T
authors.lastname: Floss
authors.forename: Daniela M Vogt
authors.initials: DM
authors.lastname: Weisenhorn
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Wurst
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
mesh_terms: D000483:Alleles; D000818:Animals; D000951:Antigens, Neoplasm / Q000235:genetics* / Q000378:metabolism; D004622:Embryo, Mammalian / Q000196:embryology / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D006579:Heterozygote; D051379:Mice; D008822:Mice, Transgenic; D009420:Nervous System / Q000196:embryology* / Q000378:metabolism*
chemical_list: D000951:Antigens, Neoplasm; C546952:periphilin protein, mouse