Lenartowicz M
Zakład Genetyki, Ewolucjonizmu Instytutu Zoologii Uniwersytetu Jagiellońskiego, Krakowie.
Postepy Hig Med Dosw. 1998;52(5):527-41.
The group of X-linked mottled (Atp7aMo) mutations in mice is described. A normal gene encodes a copper-binding P-type ATPase. Mutant animals have the disturbance in copper metabolism, hemizygous males (Mo/y) die between 14-18 days of life, heterozygous females (Mo/+) are normal and fertile. This kind of copper metabolic defect is observed also in other animal and in human. In human Menkes disease caused by X-linked Atp7a mutant gene leads to death in early childhood. Because of is 89% of homology between Atp7aMo gene and Atp7a locus in human, mottled mutations are an excellent model for Menkes disease.
本文描述了小鼠中X连锁斑驳（Atp7aMo）突变组。正常基因编码一种铜结合P型ATP酶。突变动物存在铜代谢紊乱，半合子雄性（Mo/y）在出生后14 - 18天死亡，杂合子雌性（Mo/+）正常且可育。这种铜代谢缺陷在其他动物和人类中也有观察到。在人类中，由X连锁Atp7a突变基因引起的门克斯病会导致幼儿期死亡。由于Atp7aMo基因与人类Atp7a基因座之间有89%的同源性，斑驳突变是门克斯病的一个优秀模型。
