| 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 8.0.0) Predicted to enable metal ion binding activity. 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
