The Murine Misty Mutation: Phenotypic Effects on Melanocytes, Platelets and Brown Fat

作者: Richard T. Swank , Elena V. Sviderskaya , Edward K. Novak , Dorothy C. Bennett

DOI: 10.1093/GENETICS/148.1.381

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摘要: Although the recessive murine mutation misty (m) is well known, its phenotype has never been reported beyond brief descriptions of a dilution coat color and white spotting belly extremities, suggesting developmental mutation. A report in abstract also suggested effects on fat body weight. Here, we homozygous an unusual combination three cell types: melanocytes, platelets, brown fat. Brown appeared to be completely absent from all expected locations neonatal m/m mice. prolonged bleeding time was observed; platelet count serotonin ATP levels were normal, but level ADP platelets low. Primary cultures immortal lines melanocytes mice showed several abnormalities. There marked deficiency net proliferation, that vivo may result reduced numbers their precursors. hyperdendritic morphology, overproduced melanin, had deficient responses cAMP agonists cholera toxin melanocyte-stimulating hormone, which normally promote melanin production. The gene product involved adenine nucleotide metabolism or signaling.

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