Primary Identifier | MGI:95557 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 68794 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ankyrin binding activity and identical protein binding activity. Involved in muscle cell development. Predicted to be located in several cellular components, including intercellular bridge; sarcolemma; and sarcoplasm. Is expressed in several structures, including diaphragm; embryo mesenchyme; heart; skeletal musculature; and spinal cord ventricular layer. Used to study myofibrillar myopathy 5. Human ortholog(s) of this gene implicated in distal myopathy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Orthologous to human FLNC (filamin C). PHENOTYPE: Mice homozygous for a hypomorphic allele display neonatal lethality, respiratory failure, reduced skeletal muscle mass, and abnormal skeletal muscle fiber morphology. [provided by MGI curators] |