Primary Identifier | MGI:106621 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 71602 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP hydrolysis activity; actin filament binding activity; and calmodulin binding activity. Involved in glomerular basement membrane development; glomerular filtration; and podocyte development. Acts upstream of or within several processes, including platelet-derived growth factor receptor signaling pathway; post-embryonic hemopoiesis; and vasculogenesis. Located in adherens junction; brush border; and cytoplasm. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 6. Orthologous to human MYO1E (myosin IE). PHENOTYPE: Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization. [provided by MGI curators] |