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piebaldism/arginine

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ČlankiKliničnih preskušanjPatenti
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Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism.

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Prijava / prijava
Heterozygous mutations in the gene for the Kit transmembrane receptor have been identified recently in human piebaldism and mouse "dominant spotting." Interestingly, all of the 14 known missense mutations that cause depigmentation in these species map to the tyrosine kinase domain of the receptor,

A novel Kit gene mutation in CF1 mice involved in the extracellular domain of the KIT protein.

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Prijava / prijava
We screened for natural mutations in Crl:CF1 closed colony mice using an ordinary backcrossing system. Five of 30 CF1 males carried novel genes that caused white spots on colored coats. Their backcross progenies showed a white spot phenotype. The white spot gene was mapped to approximately 39 cM on
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