Primary Identifier | MGI:3045305 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 244923 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to be involved in negative regulation of JNK cascade and negative regulation of protein phosphorylation. Located in cytoplasm and nucleus. Is expressed in axial skeleton; diaphragm; forearm rest of mesenchyme; and skeletal musculature. Used to study centronuclear myopathy. Orthologous to human KLHL31 (kelch like family member 31). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, decreased grip strength, reduced postnatal skeletal muscle weight, centronuclear myopathy, central cores, Z-disc streaming, skeletal muscle fiber degeneration and sarcoplasmic reticulum dilation. [provided by MGI curators] |