TY - JOUR
T1 - Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
AU - Hodgkinson, Colin A.
AU - Moore, Karen J.
AU - Nakayama, Atsuo
AU - Steingrímsson, Eiríkur
AU - Copeland, Neal G.
AU - Jenkins, Nancy A.
AU - Arnheiter, Heinz
N1 - Funding Information:
C. A. H. and K. J. M. contributed equally to this work. We thank Yoshi-nobu Hara for the plasmid containing the transgene fragment and for the initial analysis of the VGA-9 transgenic mouse; Lynn Lamoreux for providing tissues from miVmP mice; Jim Resnick for MC-6 mast cell RNA; Debbie Gilbert, Linda Cleveland, Marilyn Powers, and Debbie Swing for expert technical assistance; and David Fisher, Yoshi-nobu Hara, Lynn Hudson, Peter Johnson, David Kingsley, Ellen Meier, Lino Tessarolo, Pantelis Tsoulfas, Charles Vinson, and Alan Wolffe for helpful discussions and comments on the manuscript. This work was supported in part by the National Cancer Institute, Department of Health and Human Services, under contract NOl-CO-74101 with Advanced Bioscience Laboratories, Incorporated.
Copyright:
Copyright 2015 Elsevier B.V., All rights reserved.
PY - 1993/7/30
Y1 - 1993/7/30
N2 - 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 miws), 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.
AB - 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 miws), 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.
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U2 - 10.1016/0092-8674(93)90429-T
DO - 10.1016/0092-8674(93)90429-T
M3 - Article
C2 - 8343963
AN - SCOPUS:0027204149
SN - 0092-8674
VL - 74
SP - 395
EP - 404
JO - Cell
JF - Cell
IS - 2
ER -