title: Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time.
abstract: Several inherited skeletal/connective tissue defects are associated with hemorrhagic disorders in humans. Accordingly, three mouse mutants (brachymorphic [bm], hemimelic extra toes [Hx], and ulnaless [Ul]), with inherited skeletal abnormalities, were analyzed for hemorrhagic tendencies. All three had prolonged bleeding times. Platelet numbers, size, and function, as well as common soluble plasma clotting factors, were not measurably affected. To further define the bm mutation, its chromosomal location relative to 19 other molecular markers was determined to a high resolution in a large interspecific backcross. Several microsatellite markers were found to be very closely linked to bm and should provide useful entry points for the eventual identification of this gene by positional/candidate cloning techniques. These results suggest that inherited skeletal abnormalities and bleeding tendencies are associated more frequently in both humans and animal models than is commonly recognized. Identification of these genes may reveal novel relationships between osteogenesis and hemostasis.
authors.affiliation: Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
authors.forename: M E
authors.initials: ME
authors.lastname: Rusiniak
authors.forename: E P
authors.initials: EP
authors.lastname: O'Brien
authors.forename: E K
authors.initials: EK
authors.lastname: Novak
authors.forename: S M
authors.initials: SM
authors.lastname: Barone
authors.forename: M P
authors.initials: MP
authors.lastname: McGarry
authors.forename: M
authors.initials: M
authors.lastname: Reddington
authors.forename: R T
authors.initials: RT
authors.lastname: Swank
mesh_terms: D000818:Animals; D001760:Bleeding Time; D002874:Chromosome Mapping; D003238:Connective Tissue / Q000002:abnormalities*; D004392:Dwarfism / Q000235:genetics / Q000662:veterinary*; D005260:Female; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics / Q000662:veterinary*; D008297:Male; D051379:Mice; D010314:Partial Thromboplastin Time; D010974:Platelet Aggregation; D010976:Platelet Count; D011517:Prothrombin Time; D012701:Serotonin / Q000378:metabolism
chemical_list: D005819:Genetic Markers; D012701:Serotonin