| Primary Identifier | MGI:2179507 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 246179 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including basement membrane organization; brain development; and skeletal muscle fiber differentiation. Located in Golgi membrane. Is expressed in several structures, including central nervous system; future brain; genitourinary system; sensory organ; and spinal ganglion. Used to study Fukuyama congenital muscular dystrophy and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Orthologous to human FKTN (fukutin). PHENOTYPE: Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes. [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
