| Primary Identifier | MGI:2389008 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 229595 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable identical protein binding activity and protease binding activity. Acts upstream of or within epithelial cell development and extracellular matrix organization. Located in interstitial matrix. Is expressed in several structures, including central nervous system; eye anterior segment; hemolymphoid system gland; pigmented retinal epithelium; and testis. Used to study autosomal recessive isolated ectopia lentis 2 and lens disease. Human ortholog(s) of this gene implicated in autosomal recessive isolated ectopia lentis 2 and ectopia lentis with ectopia of pupil. Orthologous to human ADAMTSL4 (ADAMTS like 4). PHENOTYPE: Mice homozygous for an ENU-induced single point mutation exhibit ectopia lentis, increased ocular axial length, and focal retinal pigment epithelium defects with reduced retinal pigmentation and altered cellular morphology. [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
