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 8.0.0) 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 and hypertrophic cardiomyopathy 2. 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] |