Primary Identifier | MGI:109550 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 21957 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium-dependent protein binding activity and cytoskeletal protein binding activity. Predicted to contribute to actin binding activity. Predicted to be involved in several processes, including positive regulation of calcium-dependent ATPase activity; sarcomere organization; and skeletal muscle contraction. Predicted to be part of troponin complex. Is expressed in several structures, including diaphragm; heart; lower jaw; musculature; and urinary system. Human ortholog(s) of this gene implicated in distal arthrogryposis type 2B and distal arthrogryposis type 2B2. Orthologous to human TNNT3 (troponin T3, fast skeletal type). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects. [provided by MGI curators] |