| 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 8.0.0) Predicted to enable identical protein binding activity and protease binding activity. Acts upstream of or within epithelial cell development; extracellular matrix organization; and pigment cell development. 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
