Journal
GENOMICS
Volume 84, Issue 6, Pages 1051-1059Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2004.08.017
Keywords
embryonic stem cells; gene trap; Mospd3; Mospd1; neonatal lethality; cardiac defect; right ventricle; MSP domains; transmembrane domain
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We have identified and characterized a gene, Mospa3 on mouse chromosome 5 using gene trapping in ES cells. MOSPD3 is part of a family of proteins, including MOSPD1, which is defined by the presence of a major sperm protein (MSP) domain and two transmembrane domains. Interestingly Mospd3 is mammalian specific and highly conserved between mouse and man. Insertion of the gene trap vector at the Mospd3 locus is mutagenic and breeding to homozygosity results in a characteristic right ventricle defect and neonatal lethality in 50% of mice. The phenotypic defect is dependent on the genetic background, indicating the presence of genetic modifier loci. We Speculate that the further characterization of Mospd3 will shed light on the complex genetic interactions involved in cardiac development and disease. (C) 2004 Elsevier Inc. All rights reserved.
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