| Primary Identifier | MGI:2447586 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 243853 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dystroglycan binding activity; laminin binding activity; and phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including monocarboxylic acid metabolic process; nervous system development; and skeletal muscle organ development. Located in Golgi membrane; extracellular space; and sarcolemma. Is active in Golgi apparatus and skeletal muscle myofibril. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2I; muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; and muscular dystrophy-dystroglycanopathy type B5. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein). PHENOTYPE: Mice homozygous for a knock-out allele die by E10.5. Mice homozygous for a knock-in allele exhibit a progressive muscular dystrophy phenotype, abnormal brain morphology, defecting neuron migration, reduced body weight, and abnormal eye morphology. [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
