| Primary Identifier | MGI:98864 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 22138 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ankyrin binding activity. Involved in heart development; regulation of relaxation of cardiac muscle; and somitogenesis. Acts upstream of or within several processes, including forward locomotion; heart development; and sarcomere organization. Located in M band and Z disc. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart; lung; and musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2J; dilated cardiomyopathy 1G; and tibial muscular dystrophy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human TTN (titin). PHENOTYPE: Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age. A homozygous point mutation leads to reduced systolic function and mild ventricular dilation in the heart and increased cardiomyocyte size. [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
