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Symbol
Name
ID
Col11a1
collagen, type XI, alpha 1
MGI:88446
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Hypoplasia of the maxilla
Absent frontal sinuses
Hypoplastic frontal sinuses
Malar flattening
Hypoplasia of the zygomatic bone
Frontal bossing
Brachycephaly
Plagiocephaly
Widely patent coronal suture
Widely patent sagittal suture
Wide anterior fontanel
Thickened calvaria
Flat face
Round face
Midface retrusion
Thick lower lip vermilion
Long philtrum
Thick upper lip vermilion
Cleft palate
Submucous cleft hard palate
Bifid uvula
High palate
High, narrow palate
Narrow mouth
Abnormality of the dentition
Macrodontia of permanent maxillary central incisor
Pierre-Robin sequence
Anteverted nares
Short nose
Depressed nasal bridge
Wide nasal bridge
Sparse and thin eyebrow
Sparse eyelashes
Downslanted palpebral fissures
Epicanthus
Disease(s) Associated with COL11A1
fibrochondrogenesis
Marshall syndrome
Stickler syndrome

Mouse Phenotypes
short mandible
small Meckel's cartilage
cleft palate
protruding tongue
short snout
shortened head
Availability Mouse Genotype
Col11a1cho/Col11a1cho

Contributing Projects:
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
12/03/2019
MGI 6.14
The Jackson Laboratory