MUTATIONS AT THE MOUSE MICROPHTHALMIA LOCUS ARE ASSOCIATED WITH DEFECTS IN A GENE ENCODING A NOVEL BASIC-HELIX-LOOP-HELIX-ZIPPER PROTEIN

被引:962
作者
HODGKINSON, CA [1 ]
MOORE, KJ [1 ]
NAKAYAMA, A [1 ]
STEINGRIMSSON, E [1 ]
COPELAND, NG [1 ]
JENKINS, NA [1 ]
ARNHEITER, H [1 ]
机构
[1] NCI,FREDERICK CANC RES & DEV CTR,BASIC RES PROGRAM,ADV BIOSCI LABS,MAMMALIAN GENET LAB,FREDERICK,MD 21702
关键词
D O I
10.1016/0092-8674(93)90429-T
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Mice with mutations at the microphthalmia (mi) locus have some or all of the following defects: loss of pigmentation, reduced eye size, failure of secondary bone resorption, reduced numbers of mast cells, and early onset of deafness. Using a transgenic insertional mutation at this locus, we have identified a gene whose expression is disrupted in transgenic animals. This gene encodes a novel member of the basic-helix-loop-helix-leucine zipper (bHLH-ZIP) protein family of transcription factors, is altered in mice carrying two independent mi alleles (mi and mi(ws)), and is expressed in the developing eye, ear, and skin, all anatomical sites affected by mi. The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development.
引用
收藏
页码:395 / 404
页数:10
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