Primary Identifier | MGI:104597 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 21956 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) A structural constituent of cytoskeleton. Acts upstream of or within several processes, including cardiac muscle tissue morphogenesis; response to bacterium; and sarcomere organization. Located in sarcomere and sarcoplasm. Part of troponin complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart; musculature; and urogenital sinus. Used to study dilated cardiomyopathy 1D. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple). Orthologous to human TNNT2 (troponin T2, cardiac type). PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during and prior to organogenesis and abnormal heart development. Mice homozygous for an allele that lacks the lysine residue at position 210 exhibit dilated cardiomyopathy. [provided by MGI curators] |