|Title||A novel transmembrane MSP-containing protein that plays a role in right ventricle development.|
|Publication Type||Journal Article|
|Year of Publication||2004|
|Authors||Pall GS, Wallis J, Axton RA, Brownstein DG, Gautier P, Buerger K, Mulford C, Mullins JJ, Forrester LM|
|Date Published||2004 Dec|
|Keywords||Amino Acid Sequence, Animals, Crosses, Genetic, Female, Gene Expression Regulation, Developmental, Heart Ventricles, Heterozygote, Homozygote, Male, Membrane Proteins, Mice, Mice, Inbred C57BL, Molecular Sequence Data, Mucins, Muscle Proteins, Peptides, Sequence Homology, Amino Acid|
We have identified and characterized a gene, Mospd3 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.