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新型小鼠原发性视网膜变性(rd-3)

New mouse primary retinal degeneration (rd-3).

作者信息

Chang B, Heckenlively J R, Hawes N L, Roderick T H

机构信息

Jackson Laboratory, Bar Harbor, Maine 04609.

出版信息

Genomics. 1993 Apr;16(1):45-9. doi: 10.1006/geno.1993.1138.

Abstract

A new mouse retinal degeneration that appears to be an excellent candidate for modeling human retinitis pigmentosa is reported. In this degeneration, called rd-3, differentiation proceeds postnatally through 2 weeks, and photoreceptor degeneration starts by 3 weeks. The rod photoreceptor loss is essentially complete by 5 weeks, whereas remnant cone cells are seen through 7 weeks. This is the only mouse homozygous retinal degeneration reported to date in which photoreceptors are initially normal. Crosses with known mouse retinal degenerations rd, Rds, nr, and pcd are negative for retinal degeneration in offspring, and linkage analysis places rd-3 on mouse chromosome 1 at 10 +/- 2.5 cM distal to Akp-1. Homology mapping suggests that the homologous human locus should be on chromosome 1q.

摘要

据报道,一种新的小鼠视网膜变性似乎是模拟人类色素性视网膜炎的极佳候选模型。在这种称为rd - 3的变性中,分化在出生后持续2周,光感受器变性在3周时开始。杆状光感受器的丧失在5周时基本完成,而残余的锥体细胞在7周时仍可见。这是迄今为止报道的唯一一种光感受器最初正常的纯合小鼠视网膜变性。与已知的小鼠视网膜变性rd、Rds、nr和pcd杂交,后代视网膜变性呈阴性,连锁分析将rd - 3定位在小鼠1号染色体上,位于Akp - 1远端10±2.5 cM处。同源性图谱表明,同源的人类基因座应位于1q染色体上。

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