| Primary Identifier | MGI:1333772 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 13801 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) A structural constituent of tooth enamel. Acts upstream of or within several processes, including ameloblast differentiation; amelogenesis; and positive regulation of enamel mineralization. Located in extracellular matrix. Is expressed in jaw. Used to study amelogenesis imperfecta type 1B. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1B and amelogenesis imperfecta type 1C. Orthologous to human ENAM (enamelin). PHENOTYPE: Homozygous null mice lack true enamel due to loss of mineralization at the secretory surface of ameloblasts and mandibular incisors are opaque with a rough surface and abnormal wear on the incisal edge. ENU-induced mutant mice provide models for various clinical subtypes of amelogenesis imperfecta. [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
