| Primary Identifier | MGI:2385368 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 231470 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to be an extracellular matrix structural constituent. Acts upstream of or within several processes, including embryonic limb morphogenesis; metanephros morphogenesis; and roof of mouth development. Located in basement membrane. Is expressed in several structures, including alimentary system; body cavity or lining; brain; sensory organ; and skin. Used to study Fraser syndrome and clubfoot. Human ortholog(s) of this gene implicated in Fraser syndrome 1. Orthologous to human FRAS1 (Fraser extracellular matrix complex subunit 1). PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. [provided by MGI curators] |