title: Skeletal dysplasia and male infertility locus on mouse chromosome 9.
abstract: In mice and humans, growth insufficiency and male infertility are common disorders that are genetically and phenotypically complex. We describe a spontaneously arising mouse mutant, chagun, that is affected by both dwarfism and male infertility. Dwarfism disproportionately affects long bones and is characterized by a defect in the proliferative zone of chondrocytes in the growth plate. Gonads of mutant males are small, with apparent germ cell loss and no evidence of mature sperm. The locus responsible for chagun is recessive and maps to distal chromosome 9, in a region homologous to human chromosome 3. This location is consistent with chagun defining a novel locus. Identification of the mutant gene will uncover the basis for another type of skeletal dysplasia and male infertility.
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, 1500 W. Medical Center Drive, 4301 MSRB 3, Ann Arbor, MI 48019-0638, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Cha
authors.forename: I J
authors.initials: IJ
authors.lastname: Karolyi
authors.forename: A
authors.initials: A
authors.lastname: Hunt
authors.forename: A M
authors.initials: AM
authors.lastname: Wenglikowski
authors.forename: J E
authors.initials: JE
authors.lastname: Wilkinson
authors.forename: D F
authors.initials: DF
authors.lastname: Dolan
authors.forename: G
authors.initials: G
authors.lastname: Dootz
authors.forename: A A
authors.initials: AA
authors.lastname: Finnegan
authors.forename: A F
authors.initials: AF
authors.lastname: Seasholtz
authors.forename: K D
authors.initials: KD
authors.lastname: Hankenson
authors.forename: L D
authors.initials: LD
authors.lastname: Siracusa
authors.forename: S A
authors.initials: SA
authors.lastname: Camper
mesh_terms: D000818:Animals; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D019902:Chondrocytes / Q000648:ultrastructure; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D007006:Hypogonadism / Q000235:genetics; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000473:pathology; D010375:Pedigree; D013094:Spermatozoa / Q000473:pathology; D013737:Testis / Q000473:pathology