Gene

Col11a2

Species
Mus musculus
Symbol
Col11a2
Name
collagen, type XI, alpha 2
Synonyms
None
Biotype
protein coding gene
Automated Description
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including collagen fibril organization; sensory perception of sound; and skeletal system development. Located in collagen-containing extracellular matrix. Part of collagen trimer. Is expressed in several structures, including connective tissue; hemolymphoid system gland; limb; musculoskeletal system; and sensory organ. Used to study Stickler syndrome; autosomal dominant nonsyndromic deafness 13; and otospondylomegaepiphyseal dysplasia, autosomal recessive. Human ortholog(s) of this gene implicated in cleft palate; nonsyndromic deafness (multiple); and osteochondrodysplasia (multiple). Orthologous to human COL11A2 (collagen type XI alpha 2 chain).
MGI Description
PHENOTYPE: Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24023
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
34.260M34.265M34.270M34.275M34.280M34.285M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions