Sillence D O, Ritchie H E, Selby P B
Am J Med Genet. 1987 May;27(1):75-85. doi: 10.1002/ajmg.1320270109.
Cleidocranial dysplasia in mice, a radiation-induced skeletal mutation, showed striking homology with cleidocranial dysplasia in humans. Genetic studies indicated that the condition in mice is inherited as an autosomal dominant trait with variable expressivity and almost complete penetrance. The homozygous condition was lethal in utero. Radiographic and alcian blue/alizarin red S-stained whole-skeletal preparation studies were used to determine the extent, pattern, incidence, and distribution of skeletal abnormalities in heterozygous mice. Cleidocranial dysplasia in mice was characterized by variable clavicular hypoplasia, delayed closure of cranial fontanelles and sutures, and variable hypoplasia of pelvic bones, in particular ischiopubic rami. The gene symbol Ccd is proposed for the cleidocranial dysplasia mutation in mice and humans.
小鼠锁骨颅骨发育不全是一种辐射诱导的骨骼突变，与人类的锁骨颅骨发育不全表现出显著的同源性。遗传学研究表明，小鼠的这种病症作为常染色体显性性状遗传，具有可变的表达性和几乎完全的外显率。纯合状态在子宫内是致死的。通过X线摄影和阿尔新蓝/茜素红S染色的全骨骼标本研究来确定杂合小鼠骨骼异常的程度、模式、发生率和分布。小鼠锁骨颅骨发育不全的特征是可变的锁骨发育不全、颅囟和颅缝闭合延迟，以及骨盆骨尤其是耻骨坐骨支的可变发育不全。建议将基因符号Ccd用于小鼠和人类的锁骨颅骨发育不全突变。
