| Primary Identifier | MGI:2444465 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 242022 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable metal ion binding activity. Involved in eye development. Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; and inner ear development. Located in basement membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; intraembryonic coelom; and sensory organ. Used to study Fraser syndrome and isolated cryptophthalmia. Human ortholog(s) of this gene implicated in Fraser syndrome 2 and isolated cryptophthalmia. Orthologous to human FREM2 (FRAS1 related extracellular matrix 2). PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [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
