| Primary Identifier | MGI:99602 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 11595 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including cartilage development; collagen fibril organization; and proteoglycan biosynthetic process. Located in basement membrane. Is active in GABA-ergic synapse; glutamatergic synapse; and perisynaptic extracellular matrix. Is expressed in several structures, including embryo mesenchyme; inner ear; limb; lower jaw; and skeletal system. Used to study achondroplasia. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kimberley type. Orthologous to human ACAN (aggrecan). PHENOTYPE: Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia. [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
