DNA segment, Chr 9, MRC UK Mouse Genome Centre 44 expressed
Biotype
protein coding gene
Automated Description
Predicted to enable peptidase activity. Acts upstream of or within muscle organ development and neuromuscular junction development. Located in Z disc. Human ortholog(s) of this gene implicated in myofibrillar myopathy 7. Orthologous to human KY (kyphoscoliosis peptidase).
MGI Description
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular. [provided by MGI curators]