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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
Frontal bossing
Brachycephaly
Thickened calvaria
Micrognathia
Hypoplasia of the maxilla
Hypoplastic frontal sinuses
Hypoplasia of the zygomatic bone
Malar flattening
Flat face
Thick lower lip vermilion
Long philtrum
Thick upper lip vermilion
Cleft palate
High palate
Abnormality of the dentition
Anteverted nares
Depressed nasal bridge
Wide nasal bridge
Short nose
Sparse eyebrow
Sparse eyelashes
Disease(s) Associated with COL11A1
Marshall syndrome

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

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
07/02/2024
MGI 6.13
The Jackson Laboratory