| Primary Identifier | MGI:2670972 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 329872 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable carbohydrate binding activity and metal ion binding activity. Acts upstream of or within cell-matrix adhesion. Located in basement membrane. Is expressed in several structures, including alimentary system; bone; brain; sensory organ; and skin. Used to study Fraser syndrome; chromosome 9p deletion syndrome; and congenital diaphragmatic hernia. Human ortholog(s) of this gene implicated in congenital diaphragmatic hernia. Orthologous to human FREM1 (FRAS1 related extracellular matrix 1). PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [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
