| Primary Identifier | MGI:88446 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12814 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable heparan sulfate binding activity and heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including collagen fibril organization; skeletal system development; and ventricular cardiac muscle tissue morphogenesis. Located in extracellular matrix. Part of collagen trimer. Is expressed in several structures, including alimentary system; heart; limb; musculoskeletal system; and respiratory system. Used to study Stickler syndrome and osteoarthritis. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome 2; autosomal dominant nonsyndromic deafness; and fibrochondrogenesis 1. Orthologous to human COL11A1 (collagen type XI alpha 1 chain). PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. [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
