RESUMO
A new autosomal recessive mutation that causes hypothyroidism has been identified in mice. The gene, herein named hypothyroid (hyt), has been mapped on chromosome 12 approximately 30 units from the centromere. The mutants are characterized by retarded growth, infertility, mild anemia, elevated serum cholesterol, very low to undetectable serum thyroxine, and elevated serum thyroid-stimulating hormone. Thyroid glands are in the normal location but are reduced in size and hypoplastic. Mutant mice respond to thyroid hormone therapy by improved growth and fertility. These findings suggest that the hyt mutant gene results in primary hypothyroidism unresponsive to thyroid-stimulating hormone.
Assuntos
Hipotireoidismo/genética , Camundongos Mutantes/genética , Anemia/etiologia , Animais , Colesterol/sangue , Mapeamento Cromossômico , Cruzamentos Genéticos , Feminino , Genes Recessivos , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/veterinária , Masculino , Camundongos , Doenças dos Roedores/genética , Glândula Tireoide/patologia , Tireotropina/metabolismoRESUMO
A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end. Mutant mice are characterized by hypophosphatemia, bone changes resembling rickets, diminished bone ash, dwarfism, and high fractional excretion of phosphate anion (low net tubular reabsorption). Phosphate supplementation of the diet from wearning prevents the appearance of severe skeletal abnormalities. The hypophosphatemic male mouse resembles human males with X-linked hypophosphatemia and the Hyp gene is presemably homologous with the X-linked human gene. The mouse model should facilitate study of the defect in transport of plasma inorganic phosphate anion.
Assuntos
Modelos Animais de Doenças , Hipofosfatemia Familiar , Hipofosfatemia Familiar/genética , Animais , Peso Corporal , Cálcio/sangue , Genes Dominantes , Ligação Genética , Heterozigoto , Hipofosfatemia Familiar/etiologia , Hipofosfatemia Familiar/patologia , Hipofosfatemia Familiar/fisiopatologia , Hipofosfatemia Familiar/terapia , Camundongos , Mutação , Glândulas Paratireoides/patologia , Hormônio Paratireóideo/sangue , Fenótipo , Fosfatos/metabolismo , Fosfatos/uso terapêutico , Cromossomos SexuaisRESUMO
A new skeletal mutant in the house mouse, "malformed vertebrae" (MV), is described. It is semidominant. The skeletal malformations can be traced back to disturbed somite formation.
