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小鼠中的一种新型软骨发育不良突变体。

A new type of chondrodystrophic mutant in the mouse.

作者信息

Ferguson J M, Wallace M E, Johnson D R

出版信息

J Med Genet. 1978 Apr;15(2):128-31. doi: 10.1136/jmg.15.2.128.

Abstract

Stumpy is a new chondrodystrophic mutant in the mouse. The condition is inherited as a fully penetrant Mendelian recessive, and is not allelic with brachymorphic, achondroplasia, or stubby-three similar, previously described mutants. No chromosomal position has yet been assigned to the gene. Phenotypically, stumpy mice are chondrodystrophic dwarfs with all cartilage-formed bones in the skeleton affected. The condition differs from the usual chondrodystrophy described in mice in that proximal elements in the limbs are affected more than distal ones.

摘要

“矮胖”是小鼠中一种新的软骨发育不良突变体。这种情况作为一种完全显性的孟德尔隐性性状遗传,并且与短肢畸形、软骨发育不全或“矮胖三号”(之前描述的三种类似突变体)不是等位基因。该基因尚未定位到染色体位置。从表型上看,“矮胖”小鼠是软骨发育不良的侏儒,骨骼中所有由软骨形成的骨头都受到影响。这种情况与小鼠中通常描述的软骨发育不良不同,在于四肢的近端部分比远端部分受到的影响更大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b7f/1013661/fa208b70943a/jmedgene00297-0044-a.jpg

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