| 15530 | Q05793 | PGBM_MOUSE | Basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) [Cleaved into: Endorepellin; LG3 peptide] | DISRUPTION PHENOTYPE | About 40% of perlecan null mice die at 10.5 dpc, the rest die just after birth. Embryonic percelan-null mice exhibit cardiac abnormalities including mechanical instability in the early stages of development (10.5 dpc) with lower amounts of critical basement membrane components, collagen IV and lamanins. Basement membranes are absent in cardiomyocytes whereas adherens junctions formed and matured around 9.5 dpc. Mice also have skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities. Cartilage matrix containd reduced and disorganized collagen fibrils and glycosaminoglycans. In cartilage, proliferation of chondrocytes was reduced and the prehypertrophic zone was diminished. {ECO:0000269|PubMed:10545953, ECO:0000269|PubMed:18694874}. |