| Primary Identifier | MGI:1353466 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 30800 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metalloendopeptidase activity. Acts upstream of or within amelogenesis; extracellular matrix disassembly; and protein catabolic process. Predicted to be located in extracellular region. Is expressed in enamel organ; incisor; lower jaw molar; and upper jaw incisor. Used to study amelogenesis imperfecta hypomaturation type 2A2. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A2. Orthologous to human MMP20 (matrix metallopeptidase 20). PHENOTYPE: Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology. [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
