| Primary Identifier | MGI:1337006 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 12950 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in central nervous system development and skeletal system development. Located in extracellular matrix. Is active in synapse. Is expressed in several structures, including brain; cartilage; genitourinary system; heart; and limb. Used to study spondyloepiphyseal dysplasia congenita. Orthologous to human HAPLN1 (hyaluronan and proteoglycan link protein 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [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
