Seller M J, Wallace M E
Department of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, England.
Teratology. 1993 Oct;48(4):383-91. doi: 10.1002/tera.1420480411.
A new mouse mutant, tail short variable (Tsv) produces a reduction deformity of the tail, growth retardation, and, in adults, a mild anemia. Genetic and embryological studies show that on all genetic backgrounds there is variable viability of Tsv/Tsv and Tsv/+ and phenotypic overlap within these and with +/+. A modifier is located to a short segment of chromosome 7, which alters the tail length of Tsv/+ mice up to 15%. The modifier, Tsv, and a coat texture mutant come from the same wild Peru mouse. The tail deformity is associated with, and may be caused by, a vascular disruption of the caudal aorta starting on day 11 of gestation. Thus Tsv appears to be different from each of the thirty known mouse mutants involving the tail. It is suggested that Tsv could be a mouse model for human conditions involving transverse terminal limb defects such as Moebius and de Lange syndromes.
一种新的小鼠突变体——短尾可变（Tsv），会导致尾巴出现缩短畸形、生长迟缓，成年小鼠还会出现轻度贫血。遗传学和胚胎学研究表明，在所有遗传背景下，Tsv/Tsv和Tsv/+的生存能力各不相同，并且这些组合之间以及与+/+之间存在表型重叠。一个修饰基因定位于7号染色体的一个短片段上，它可使Tsv/+小鼠的尾巴长度改变达15%。该修饰基因、Tsv和一个被毛质地突变体都来自同一只野生秘鲁小鼠。尾巴畸形与妊娠第11天开始的尾主动脉血管破坏有关，并且可能是由其引起的。因此，Tsv似乎与已知的30种涉及尾巴的小鼠突变体都不同。有人提出，Tsv可能是人类涉及横向末端肢体缺陷（如莫比乌斯综合征和德朗热综合征）疾病的小鼠模型。
