Wojtowicz A, Moutier R, Grzesik W, Dziedzic-Goclawska A, Lamendin H, Ostrowski K
Department of Histology and Embryology, Medical School, Warsaw.
Arch Ital Anat Embriol. 1990 Oct-Dec;95(3-4):209-21.
Microphtalmic blanc mutation (mib/mib) displays a very mild form of osteopetrosis in rats. The autosomal recessive mib mutation shows pleiotropic expressions in homozygotes. Microphtalmia, absence of eye and skin pigmentation, retardation in the tooth eruption were observed in the mutants. Most bone abnormalities occurred in newborns. An increased radiological opacity of long bones, persistence of primitive bone in medullary cavities, reduced number of poorly differentiated osteoclasts in mandibulae, reduced number of mononuclear peritoneal cells as well as reduced number of mononuclear osteoclast precursors in peritoneal cell population were found. In 3 weeks old and in adult mutants, both bone structure and the number of mandible osteoclasts appear normal, but the number of blood monocytes, peritoneal cells and mononuclear osteoclast precursors in peritoneal cell population remain significantly lower than in the healthy littermates. These observations indicate that the early failure of osteoclast differentiation and maturation is transient in the mib/mib form of osteopetrosis.
小眼白化突变（mib/mib）在大鼠中表现出非常轻微的骨质石化形式。常染色体隐性mib突变在纯合子中表现出多效性表达。在突变体中观察到小眼症、无眼和皮肤色素沉着、牙齿萌出延迟。大多数骨骼异常发生在新生儿中。发现长骨的放射不透明度增加、髓腔中原始骨持续存在、下颌骨中低分化破骨细胞数量减少、腹腔单核细胞数量减少以及腹腔细胞群体中单核破骨细胞前体数量减少。在3周龄和成年突变体中，骨骼结构和下颌骨破骨细胞数量看起来正常，但腹腔细胞群体中的血液单核细胞、腹腔细胞和单核破骨细胞前体数量仍显著低于健康同窝仔。这些观察结果表明，破骨细胞分化和成熟的早期失败在mib/mib形式的骨质石化中是短暂的。
