| Primary Identifier | MGI:1338002 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 14545 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within response to retinoic acid. Predicted to be located in cytosol and mitochondrion. Predicted to be active in mitochondrial outer membrane. Is expressed in several structures, including future brain; ileum; male reproductive gland or organ; and nervous system. Used to study Charcot-Marie-Tooth disease axonal type 2K. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease recessive intermediate A; and Charcot-Marie-Tooth disease type 4A. Orthologous to human GDAP1 (ganglioside induced differentiation associated protein 1). PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [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
