|
Symbol Name ID |
Col11a1
collagen, type XI, alpha 1 MGI:88446 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Brachycephaly |
Thickened calvaria |
Micrognathia |
Hypoplasia of the maxilla |
Absent frontal sinuses |
Hypoplastic frontal sinuses |
Hypoplasia of the zygomatic bone |
Malar flattening |
Widely patent coronal suture |
Widely patent sagittal suture |
Wide anterior fontanel |
Flat face |
Midface retrusion |
Thick lower lip vermilion |
Long philtrum |
Thick upper lip vermilion |
Bifid uvula |
Cleft palate |
High palate |
High, narrow palate |
Narrow mouth |
Abnormality of the dentition |
Macrodontia of permanent maxillary central incisor |
Pierre-Robin sequence |
Anteverted nares |
Depressed nasal bridge |
Wide nasal bridge |
Short nose |
Sparse eyebrow |
Sparse eyelashes |
Epicanthus |
| Disease(s) Associated with COL11A1 | ||||||||||||||||||||||||||||||||
| fibrochondrogenesis 1 | ||||||||||||||||||||||||||||||||
| Marshall syndrome | ||||||||||||||||||||||||||||||||
| Stickler syndrome 2 |
| Mouse Phenotypes | small Meckel's cartilage |
short mandible |
abnormal facial morphology |
cleft palate |
protruding tongue |
short snout |
shortened head |
|
| Availability | Mouse Genotype | |||||||
| Col11a1cho/Col11a1cho | ||||||||
| Col11a1em1(IMPC)Bay/Col11a1em1(IMPC)Bay | ||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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