Primary Identifier | MGI:109282 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 11790 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase activity. Acts upstream of or within cardiac muscle cell development; in utero embryonic development; and respiratory system development. Predicted to be located in nucleus. Is expressed in arterial blood vessel; dorsal root ganglion; heart; spinal cord; and trachea. Human ortholog(s) of this gene implicated in centronuclear myopathy 5. Orthologous to human SPEG (striated muscle enriched protein kinase). PHENOTYPE: Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. [provided by MGI curators] |