title: A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots.
abstract: A new spontaneous mouse mutant (ntl) with autosomal-recessive osteopetrosis was characterized. These mice formed tartrate-resistant acid phosphate (TRAP)-positive osteoclasts but their osteoclasts had no ruffled border and did not resorb bone. These mice displayed no tooth eruption or tooth root formation. Adult mutant mice developed odontoma-like proliferations near the proximal ends of the incisors. Intraperitoneal injection of progenitor cells from the liver of 16.5 days postcoitum wild-type embryos into newborn mutants rescued the osteopetrosis phenotype, indicating that the defects were intrinsic to the osteoclasts. Our findings not only provide further support for a critical role of osteoclasts in tooth eruption and tooth root development, but also suggest that the perturbation of the homeostasis of the odontogenic precursors of the incisors is primarily responsible for the development of the odontoma-like proliferations in this osteopetrosis mutant. Genetic mapping has narrowed down the location of the mutant allele to a genetic interval of 3.2 cM on mouse chromosome 17.
authors.affiliation: Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH, USA.
authors.forename: Xincheng
authors.initials: X
authors.lastname: Lu
authors.forename: Hector F
authors.initials: HF
authors.lastname: Rios
authors.forename: Baichun
authors.initials: B
authors.lastname: Jiang
authors.forename: Lianping
authors.initials: L
authors.lastname: Xing
authors.forename: Renata
authors.initials: R
authors.lastname: Kadlcek
authors.forename: Edward M
authors.initials: EM
authors.lastname: Greenfield
authors.forename: Guangbin
authors.initials: G
authors.lastname: Luo
authors.forename: Jian Q
authors.initials: JQ
authors.lastname: Feng
mesh_terms: D000135:Acid Phosphatase / Q000032:analysis; D000483:Alleles; D000818:Animals; D015415:Biomarkers / Q000032:analysis; D001862:Bone Resorption / Q000235:genetics / Q000473:pathology; D002478:Cells, Cultured; D018118:Chloride Channels / Q000032:analysis; D033481:Chromosomes, Mammalian / Q000235:genetics; D004195:Disease Models, Animal; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006706:Homeostasis / Q000235:genetics; D007180:Incisor / Q000002:abnormalities; D007527:Isoenzymes / Q000032:analysis; D008099:Liver / Q000166:cytology; D051379:Mice; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D008817:Mice, Mutant Strains; D009154:Mutation / Q000235:genetics; D009805:Odontogenesis / Q000235:genetics; D009810:Odontoma / Q000235:genetics*; D010010:Osteoclasts / Q000502:physiology*; D010022:Osteopetrosis / Q000235:genetics*; D010641:Phenotype; D013234:Stem Cells / Q000502:physiology; D000071681:Tartrate-Resistant Acid Phosphatase; D014078:Tooth Eruption / Q000235:genetics; D014092:Tooth Root / Q000002:abnormalities*
chemical_list: D015415:Biomarkers; D018118:Chloride Channels; C490803:Clcn7 protein, mouse; D007527:Isoenzymes; D000135:Acid Phosphatase; C000605511:Acp5 protein, mouse; D000071681:Tartrate-Resistant Acid Phosphatase