Circling, deafness, and yellow coat displayed by yellow submarine (Ysb) and light coat and circling (Lcc) mice with mutations on chromosome 3

Circling, deafness, and yellow coat displayed by yellow submarine (Ysb) and light coat and circling (Lcc) mice with mutations on chromosome 3
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DOI:
10.1006/geno.2002.6783
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发表时间:
2002-06-01
期刊:
影响因子:
4.4
通讯作者:
Cheah, KSE
Cheah, KSE
中科院分区:
生物学3区
文献类型:
--
作者:
Dong, S;Leung, KKH;Cheah, KSE

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我们在这里描述了两个小鼠突变体,黄色潜水艇(Ysb)和浅色外套和盘旋(Lcc)。Ysb是将转基因pAA 2插入基因组的结果。Lcc是一种独立的辐射诱发突变。这两个突变体的特点是隐性盘旋行为和耳聋,与非分离,半显性黄色毛色。互补试验表明Ysb和Lcc是等位的。我们将Ysb和Lcc小鼠的黄色被毛归因于没有黑色锥状上毛,增加了锯齿形下毛,以及存在长的亚顶端黄色色素的锥状上毛。染色体定位和基因组表征显示Ysb和Lcc突变分别涉及小鼠3号染色体A2/A3-B/C和B-E1重叠区域的复杂染色体重排。据我们所知,Ysb和Lcc第一次显示了3号染色体B-C区域中存在对平衡和听力以及被毛的色素沉着和规格很重要的基因。
We describe here two mouse mutants, yellow submarine (Ysb) and light coat and circling (Lcc). Ysb arose as the result of insertions of a transgene, pAA2, into the genome. Lcc is an independent, radiation-induced mutation. Both mutants are characterized by recessive circling behavior and deafness, associated with a non-segregating, semi-dominant yellow coat color. Complementation tests showed that Ysb and Lcc are allelic. We attribute the yellow coat in Ysb and Lcc mice to the absence of black awl overhairs, increased agouti zigzag underhairs, and the presence of agouti awls with long subapical yellow pigment. Chromosomal mapping and genomic characterization showed the Ysb and Lcc mutations involve complex chromosomal rearrangements in overlapping regions of mouse chromosome 3, A2/A3-B/C and B-E1, respectively. Ysb and Lcc show for the first time, to our knowledge, the presence of genes in the B-C region of chromosome 3 important for balance and hearing and the pigmentation and specification of coat hair.