Ferguson J M, Wallace M E, Johnson D R
J Med Genet. 1978 Apr;15(2):128-31. doi: 10.1136/jmg.15.2.128.
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.
“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。
