| 226049 |
Q8BG36 |
DMRT2_MOUSE |
Doublesex- and mab-3-related transcription factor 2 (Doublesex-like 2 protein) (Terra) |
DISRUPTION PHENOTYPE |
Mice heterozygous for Dmrt2 mutation exhibit no visible phenotype. Homozygotes are perinatally lethal due to signs of respiratory distress. They have rib, sternal, vertebral and skull base malformations. Expression of myogenic growth factors, such as Pax3 and Myog, the growth factor Pdgfa, cadherin Cdh2, and the filament protein Des is abnormal. Mutants lack most or all of the epithelial organization seen in wild-type somites, sclerotome and dermomyotome. Mutants have disrupted production of matrix components including laminin-1 in the dermomyotome. Arrangement of the myogenic cells of the inter-limb somites is abnormal. Myf5 activation in the epaxial domain is retarded thus having consequences in the myogenesis by delaying expression of Myog. Mutants do not have left-right defects regarding internal organs positioning. Dmrt2 and Pax3 double null mutant embryos exhibit suspended development and Myog expression is markedly decreased and its expression pattern dramatically distorted. {ECO:0000269|PubMed:16387292, ECO:0000269|PubMed:17974128, ECO:0000269|PubMed:20368965, ECO:0000269|PubMed:21203428}. |