Primary Identifier | MGI:105070 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 21953 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable troponin T binding activity. Predicted to contribute to actin binding activity. Predicted to be involved in cardiac muscle contraction; positive regulation of DNA-templated transcription; and skeletal muscle contraction. Predicted to be located in nucleus. Predicted to be part of troponin complex. Is expressed in several structures, including alimentary system; eyelid epithelium; heart; hindlimb muscle; and integumental system. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita and distal arthrogryposis type 2B1. Orthologous to human TNNI2 (troponin I2, fast skeletal type). PHENOTYPE: Mice homozygous for a gain of function mutation exhibit impeded bone development. [provided by MGI curators] |