title: The myelin vacuolation (mv) rat with a null mutation in the attractin gene.
abstract: We recently found a spontaneous tremor mutant in an outbred colony of Sprague-Dawley rats. The tremor behavior was exhibited from around 3 weeks of age and inherited as an autosomal recessive trait. The mutant rats had variously sized vacuoles in the neuropil and white matter throughout the central nervous system, especially in the brain stem, cerebellum, and spinal cord. Ultrastructurally these vacuoles mainly consisted of splitting of myelin lamella both in the periaxonal and intermyelinic spaces. Linkage analysis using intercross progeny between the myelin vacuolation (mv) rat, named after the pathologic characteristics, and normal control rat strains showed that the mv phenotypes were cosegregated with polymorphic markers adjacent to the Atrn (Attractin, formerly zi [zitter]) locus on rat chromosome 3. A test for allelism suggested that the mv mutation was a new allele in ATRN: In comparison with a marked decrease of Atrn(zi)/Arn(zi), Northern blot analysis revealed no expression of Atrn mRNA in the brain of the mv rats. Finally, a genomic deletion including exon 1 of the mv rats was detected by genomic and sequence analyses. Discovery of the rat null mutation Atrn(mv), different from Atrn(zi), provides a new animal model for studying the functions of the attractin protein.
authors.affiliation: Laboratory of Veterinary Pathology, Osaka Prefecture University, Osaka, Japan. kuwamura@vet.osakafu-u.ac.jp
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kuwamura
authors.forename: Masaya
authors.initials: M
authors.lastname: Maeda
authors.forename: Takashi
authors.initials: T
authors.lastname: Kuramoto
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kitada
authors.forename: Toshiko
authors.initials: T
authors.lastname: Kanehara
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Moriyama
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Nakane
authors.forename: Jyoji
authors.initials: J
authors.lastname: Yamate
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Ushijima
authors.forename: Takao
authors.initials: T
authors.lastname: Kotani
authors.forename: Tadao
authors.initials: T
authors.lastname: Serikawa
mesh_terms: D000818:Animals; D001369:Axons / Q000473:pathology; D001921:Brain / Q000473:pathology*; D003433:Crosses, Genetic; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009186:Myelin Sheath / Q000473:pathology*; D051381:Rats; D011922:Rats, Mutant Strains; D017207:Rats, Sprague-Dawley; D015183:Restriction Mapping; D013116:Spinal Cord / Q000473:pathology; D013904:Thoracic Vertebrae / Q000473:pathology; D014202:Tremor / Q000235:genetics* / Q000473:pathology; D014617:Vacuoles / Q000473:pathology*
chemical_list: C492191:Atrn protein, rat; D008565:Membrane Proteins