Primary Identifier | MGI:1929878 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 64075 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables extracellular matrix binding activity. Involved in eye development and limb development. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in basement membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hindlimb; and sensory organ. Used to study microphthalmia with limb anomalies. Human ortholog(s) of this gene implicated in microphthalmia with limb anomalies. Orthologous to human SMOC1 (SPARC related modular calcium binding 1). PHENOTYPE: Mice homozygous for a transposon-induced allele exhibit ocular and limb defects. Mice homozygous for a knock-out allele exhibit neonatal lethality, osseous syndactyly, decreased body size, and iris and retina coloboma. [provided by MGI curators] |