Johnson Kenneth R, Lane Priscilla W, Cook Susan A, Harris Belinda S, Ward-Bailey Patricia F, Bronson Roderick T, Lyons Bonnie L, Shultz Leonard D, Davisson Muriel T
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Genomics. 2003 Jan;81(1):6-14. doi: 10.1016/s0888-7543(02)00013-7.
In the outcrossing of a new recessive mouse mutation causing hair loss, a new wavy-coated phenotype appeared. The two distinct phenotypes were shown to be alternative manifestations of the same gene mutation and attributable to a single modifier locus. The new mutation, curly bare (cub), was mapped to distal Chr 11 and the modifier (mcub) was mapped to Chr 5. When homozygous for the recessive mcub allele, cub/cub mice appear hairless. A single copy of the dominant Mcub allele confers a full, curly coat in cub/cub mice. Reciprocal transfer of full-thickness skin grafts between mutant and control animals showed that the skin phenotype was tissue autonomous. The hairless cub/cub mcub/mcub mice show normal contact sensitivity responses to oxazolone. The similarity of the wavy coat phenotype to those of Tgfa and Egfr mutations and the map positions of cub and mcub suggest candidate genes that interact in the EGF receptor signal transduction pathway.
在一种导致脱发的新隐性小鼠突变的杂交中，出现了一种新的波浪毛表型。这两种不同的表型被证明是同一基因突变的交替表现，且归因于一个单一的修饰位点。新的突变卷曲裸毛（cub）被定位到11号染色体远端，修饰基因（mcub）被定位到5号染色体。当隐性mcub等位基因纯合时，cub/cub小鼠表现为无毛。显性Mcub等位基因的一个拷贝使cub/cub小鼠具有完整的卷曲毛发。突变体和对照动物之间全层皮肤移植的相互转移表明，皮肤表型是组织自主性的。无毛的cub/cub mcub/mcub小鼠对恶唑酮表现出正常的接触敏感性反应。波浪毛表型与Tgfa和Egfr突变的表型相似，以及cub和mcub的定位，提示了在表皮生长因子受体信号转导途径中相互作用的候选基因。
