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Publication : The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fat.

First Author  Sviderskaya EV Year  1998
Journal  Genetics Volume  148
Issue  1 Pages  381-90
PubMed ID  9475748 Mgi Jnum  J:45425
Mgi Id  MGI:1195414 Doi  10.1093/genetics/148.1.381
Citation  Sviderskaya EV, et al. (1998) The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fat. Genetics 148(1):381-90
abstractText  Although the recessive murine mutation misty (m) is well known, its phenotype pe has never been reported beyond brief descriptions of a dilution of coat Color and white spotting of the belly and extremities, suggesting a developmental mutation. A report in abstract has also suggested effects on white fat and body weight. Here, we report effects of the homozygous misty mutation on an unusual combination of three cell types: melanocytes, platelets, and brown fat. Brown fat appeared to be completely absent fr-om all expected locations in neonatal m/m mice. A prolonged bleeding time was observed; platelet count and platelet serotonin and ATP levels were normal, but the level of ADP in m/m platelets was low Primary cultures and immortal lines of melanocytes from m/m mice showed several abnormalities. There was a marked deficiency in net proliferation, suggesting that the color dilution and spotting in vivo may result from reduced numbers of melanocytes and their precursors. M/m melanocytes were also hyperdendritic in morphology, over- produced melanin, and had deficient responses to the cAMP agonists cholera toxin and melanocyte-stimulating hormone, which normally promote melanin production. The misty gene product map be involved in adenine nucleotide metabolism or signaling.
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