The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus.
The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus.
复制标题
小家鼠小眼位点两个突变等位基因对眼睛和骨骼的影响。
DOI：
10.1002/jez.1401650103
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发表时间：
1967
期刊：
影响因子：
--
通讯作者：
S. Packer
中科院分区：
文献类型：
--
作者：
S. Packer
mi/mi小鼠患有严重的小眼症，其骨骼几乎完全没有继发性骨吸收，并且其眼睛和毛发没有色素。 Miwh/Miwh 小鼠为白色，眼睛尺寸较小。
mi/mi 眼在胚胎发育的第十天首次通过异常厚的色素层和微弱内陷的视杯来区分。这些异常现象在较老的胚胎中仍然存在。该区域色素层的倒置阻止了突变体脉络裂的正常闭合。在发育第十一天期间，在 Miwh/Miwh 眼中观察到神经视网膜外翻和色素层紊乱。这些异常导致了典型缺损的形成。随后 mi/mi 和 Miwh/Miwh 眼的异常可归因于缺损和随之而来的眼内压不足。视杯色素层和神经层中的有丝分裂计数表明，mi/mi 和 Miwh/Miwh 眼色素层中的有丝分裂数量增加。
mi/mi破骨细胞几乎一致地小且圆形，并且比大的、不规则的、多核的正常破骨细胞具有显着更少的细胞核。破骨细胞计数表明，突变的顶骨并不缺乏破骨细胞，并且破骨细胞的数量可能高于正常数量。突变的破骨细胞的细胞核外观、细胞质空泡出现频率或细胞质嗜碱性粒细胞、RNA或泡沫的量没有异常。虽然正常的破骨细胞基本上不含糖原，但mi/mi破骨细胞作为一个整体含有大量的糖原。
The mi/mi mouse has a severe microphthalmia, its skeleton shows an almost complete absence of secondary bone resorption, and its eyes and hair have no pigment. The Miwh/Miwh mouse is white with a reduced eye size.
The mi/mi eye was first distinguished during the tenth day of embryonic development by an abnormally thick pigment layer and a weakly invaginated optic cup. These abnormalities persisted in the older embryos. Normal closure of the mutant choroid fissure was prevented by the inversion of the pigment layer in this region. An eversion of the nervous retina and derangement of the pigment layer were observed in the Miwh/Miwh eye during the eleventh day of development. These abnormalities led to the formation of a typical coloboma. Subsequent abnormalities of the mi/mi and Miwh/Miwh eyes were attributable to the colobomata and the consequent lack of intraocular pressure. Counts of mitoses in the pigment and nervous layers of the optic cups showed that there were increased numbers of mitoses in the pigment layers of both the mi/mi and Miwh/Miwh eyes.
The mi/mi osteoclasts were almost uniformly small and rounded and had significantly fewer nuclei than the large, irregular, multinucleated normal osteoclasts. Osteoclast counts indicated that the mutant parietal bone is not deficient in osteoclasts and may have higher than normal numbers. Mutant osteoclasts were not abnormal in the appearance of their nuclei, frequency of occurrence of cytoplasmic vacuoles, or amount of cytoplasmic basophilia, RNA, or foaminess. While normal osteoclasts contained essentially no glycogen, mi/mi osteoclasts contained, as a group, large amounts of glycogen.