Primary Identifier | MGI:1333868 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 21955 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable tropomyosin binding activity and troponin T binding activity. Acts upstream of or within transition between fast and slow fiber. Predicted to be part of troponin complex. Is expressed in several structures, including alimentary system; brain; crus of diaphragm; heart; and skeletal musculature. Used to study nemaline myopathy 5A. Human ortholog(s) of this gene implicated in nemaline myopathy 5A; nemaline myopathy 5B; and nemaline myopathy 5C. Orthologous to human TNNT1 (troponin T1, slow skeletal type). PHENOTYPE: Mice homozygous for a null or hypomorphic allele show small and loss of type I slow skeletal muscle fibers with compensatory hypertrophy of type II fast fibers and reduced contractile force and tolerance of skeletal muscle fibers. [provided by MGI curators] |