| Primary Identifier | MGI:1891495 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 57339 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of muscle. Acts upstream of or within muscle organ development. Located in Z disc; junctional sarcoplasmic reticulum membrane; and plasma membrane. Part of junctional membrane complex. Is expressed in several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1). PHENOTYPE: Homozygotes for a targeted null mutation fail to suckle and die shortly after birth. Mutants exhibit deficiencies of triad junctions and contraction in skeletal muscle. [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
