| Primary Identifier | MGI:96257 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 15530 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protease binding activity. Involved in receptor-mediated endocytosis. Acts upstream of or within several processes, including cardiac muscle tissue development; extracellular matrix organization; and skeletal system development. Located in basement membrane. Is expressed in several structures, including alimentary system; cardiovascular system; early conceptus; genitourinary system; and nervous system. Used to study Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; dextro-looped transposition of the great arteries; and thanatophoric dysplasia. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Orthologous to human HSPG2 (heparan sulfate proteoglycan 2). PHENOTYPE: Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
