| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
Genetics, Vol. 175, 725-736, February 2007, Copyright © 2007
doi:10.1534/genetics.106.064733
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||




* Institute of Human Genetics and
Institute of Pathology, GSF—National Research Center for Environment and Health, D-85764 Neuherberg, Germany and
Chair of General Pathology and Neuropathology and
Institute of Molecular Animal Breeding and Biotechnology, Veterinary Faculty, Ludwig-Maximilians-University, D-80539 Munich, Germany
1 Corresponding author: Institute of Human Genetics, GSF—National Research Center for Environment and Health, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany.
E-mail: favor{at}gsf.de
1(IV)]2[
2(IV)], which is ubiquitously expressed in basement membranes during early developmental stages. We present the genetic, molecular, and phenotypic characterization of nine Col4a1 and three Col4a2 missense mutations recovered in random mutagenesis experiments in the mouse. Heterozygous carriers express defects in the eye, the brain, kidney function, vascular stability, and viability. Homozygotes do not survive beyond the second trimester. Ten mutations result in amino acid substitutions at nine conserved Gly sites within the collagenous domain, one mutation is in the carboxy-terminal noncollagenous domain, and one mutation is in the signal peptide sequence and is predicted to disrupt the signal peptide cleavage site. Patients with COL4A2 mutations have still not been identified. We suggest that the spontaneous intraorbital hemorrhages observed in the mouse are a clinically relevant phenotype with a relatively high predictive value to identify carriers of COL4A1 or COL4A2 mutations. This article has been cited by other articles:
![]() |
J. Favor, C. J. Gloeckner, A. Neuhauser-Klaus, W. Pretsch, R. Sandulache, S. Saule, and I. Zaus Relationship of Pax6 Activity Levels to the Extent of Eye Development in the Mouse, Mus musculus Genetics, July 1, 2008; 179(3): 1345 - 1355. [Abstract] [Full Text] [PDF] |
||||
![]() |
O. Gross Understanding renal disorders as systemic diseases: the fascinating world of basement membranes beyond the glomerulus Nephrol. Dial. Transplant., June 1, 2008; 23(6): 1823 - 1825. [Full Text] [PDF] |
||||
![]() |
J. Stoy, E. L. Edghill, S. E. Flanagan, H. Ye, V. P. Paz, A. Pluzhnikov, J. E. Below, M. G. Hayes, N. J. Cox, G. M. Lipkind, et al. Insulin gene mutations as a cause of permanent neonatal diabetes PNAS, September 18, 2007; 104(38): 15040 - 15044. [Abstract] [Full Text] [PDF] |
||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |