| Primary Identifier | MGI:109547 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 13430 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including D2 dopamine receptor binding activity; enzyme binding activity; and protein domain specific binding activity. Involved in synaptic vesicle endocytosis. Acts upstream of or within aorta development; coronary vasculature development; and ventricular septum development. Located in clathrin-coated pit and photoreceptor inner segment. Is expressed in several structures, including alimentary system; central nervous system; oocyte; sensory organ; and skin. Used to study centronuclear myopathy; cystic kidney disease; microcytic anemia; and myopathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate B; centronuclear myopathy 1; and lethal congenital contracture syndrome. Orthologous to human DNM2 (dynamin 2). PHENOTYPE: Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum. [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
