| Primary Identifier | MGI:1918480 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 69190 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable enzyme binding activity. Predicted to be involved in Golgi organization and bone development. Predicted to be located in cytoplasm. Predicted to be active in Golgi apparatus. Is expressed in cerebellum; retina inner nuclear layer; and retina outer nuclear layer. Used to study Smith-McCort dysplasia. Human ortholog(s) of this gene implicated in Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia 1; and osteochondrodysplasia. Orthologous to human DYM (dymeclin). PHENOTYPE: Mice homozygous for a gene trapped allele display decreased body size with short tubular bones, chondrodysplasia, partial penetrance of obstructive hydronephrosis and impaired vesicular transport. [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
