| Primary Identifier | MGI:99502 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 16997 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable microfibril binding activity. Acts upstream of or within supramolecular fiber organization. Located in collagen-containing extracellular matrix. Is expressed in several structures, including cardiovascular system; connective tissue; genitourinary system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in Weill-Marchesani syndrome and megalocornea. Orthologous to human LTBP2 (latent transforming growth factor beta binding protein 2). PHENOTYPE: Mice homozygous for a null allele exhibit early embryonic lethality prior to E6.5. Mice homozygous for a different null allele are viable, fertile, and developmentally normal but develop lens dislocations due to ciliary zonule fragmentation. [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
