NDLI: Type IV Procollagen Missense Mutations Associated With Defects of the Eye, Vascular Stability, the Brain, Kidney Function and Embryonic or Postnatal Viability in the Mouse, Mus musculus: An Extension of the Col4a1 Allelic Series and the Identification of the First Two Col4a2 Mutant Alleles

Content Provider	PubMed Central
Author	Favor, Jack Gloeckner, Christian Johannes Janik, Dirk Martina, Klempt Angelika, Neuhäuser-klaus Pretsch, Walter Schmahl, Wolfgang Leticia, Quintanilla-fend
Copyright Year	2007
Abstract	The basement membrane is important for proper tissue development, stability, and physiology. Major components of the basement membrane include laminins and type IV collagens. The type IV procollagens Col4a1 and Col4a2 form the heterotrimer [α1(IV)]2[α2(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.
Related Links	http://dx.doi.org/10.1534/genetics.106.064733
Ending Page	736
Page Count	12
Starting Page	725
File Format	PDF
ISSN	00166731
Journal	Genetics
Issue Number	2
Volume Number	175
Language	English
Publisher	Copyright © 2007 by the Genetics Society of America
Publisher Date	2007-02-01
Access Restriction	Open
Rights Holder	Copyright © 2007 by the Genetics Society of America
Subject Keyword	Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics

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