Primary Identifier | MGI:1924268 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 77018 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable amyloid-beta binding activity; heparin binding activity; and identical protein binding activity. Acts upstream of or within axonogenesis involved in innervation. Located in collagen-containing extracellular matrix. Is expressed in retina layer; skeletal muscle; telencephalon; and ureter. Human ortholog(s) of this gene implicated in congenital fibrosis of the extraocular muscles 5. Orthologous to human COL25A1 (collagen type XXV alpha 1 chain). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, cyanosis and abnormal body curvature with apoptosis of phrenic nerve motor neurons and failure of diaphragm innervation. [provided by MGI curators] |