| 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 9.1.0) Predicted to enable microfibril binding activity. Acts upstream of or within supramolecular fiber organization. Located in 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
