| Primary Identifier | MGI:3525053 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 333654 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including cardiac muscle contraction; heart development; and negative regulation of transcription by RNA polymerase II. Predicted to be located in cell junction; cytosol; and intercellular bridge. Is expressed in esophagus; sensory organ; submandibular gland primordium; and vibrissa. Used to study arrhythmogenic right ventricular cardiomyopathy. Orthologous to human PPP1R13L (protein phosphatase 1 regulatory subunit 13 like). PHENOTYPE: Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility. [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
