| Primary Identifier | MGI:1925044 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 77794 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microfibril binding activity. Acts upstream of or within extracellular matrix organization; lobar bronchus epithelium development; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in extracellular matrix and extracellular region. Is expressed in several structures, including cardiovascular system; limb; lung; musculoskeletal system; and tail mesenchyme. Used to study geleophysic dysplasia 1 and impotence. Human ortholog(s) of this gene implicated in geleophysic dysplasia 1. Orthologous to human ADAMTSL2 (ADAMTS like 2). PHENOTYPE: Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. Homozygotes for a spontaneous mutation exhibit a mild disproportionate dwarfism. Most males are infertile. [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
