| Primary Identifier | MGI:1921256 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 74006 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein homodimerization activity. Involved in several processes, including organelle fission; regulation of ATP metabolic process; and regulation of organelle organization. Acts upstream of or within several processes, including mitocytosis; protein localization to mitochondrion; and regulation of ubiquitin protein ligase activity. Located in several cellular components, including brush border; mitochondrial outer membrane; and peroxisome. Is expressed in heart. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in encephalopathy due to defective mitochondrial and peroxisomal fission 1 and optic atrophy 5. Orthologous to human DNM1L (dynamin 1 like). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5. Brain isoform-specific KO results in ectopic dendrite growth in the hippocampus and enhanced sensorimotor gating. [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
