Symbol Name ID |
Sox9
SRY (sex determining region Y)-box 9 MGI:98371 |
Darker colors indicate more annotations |
Human Phenotypes | Frontal bossing |
Micrognathia |
Macrocephaly |
Relative macrocephaly |
Wide anterior fontanel |
Flat face |
Small face |
Midface retrusion |
High forehead |
Long philtrum |
Submucous cleft hard palate |
Cleft palate |
High palate |
Narrow mouth |
Irregular dentition |
Carious teeth |
Depressed nasal ridge |
Depressed nasal bridge |
Recurrent upper respiratory tract infections |
Abnormality of the sense of smell |
Blepharophimosis |
Short palpebral fissure |
Epicanthus |
Disease(s) Associated with SOX9 | |||||||||||||||||||||||
campomelic dysplasia |
Mouse Phenotypes | abnormal craniofacial morphology |
abnormal craniofacial bone morphology |
abnormal cranium morphology |
absent basisphenoid bone |
absent styloid process |
abnormal Meckel's cartilage morphology |
absent Meckel's cartilage |
decreased cranium length |
absent presphenoid bone |
abnormal hyoid bone morphology |
absent hyoid bone body |
absent hyoid bone lesser horns |
small mandible |
short mandible |
short maxilla |
micrognathia |
domed cranium |
absent incus |
absent malleus |
absent stapes |
abnormal craniofacial development |
absent nasal capsule |
cleft secondary palate |
bilateral cleft palate |
bifurcated tongue |
short snout |
abnormal head shape |
shortened head |
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Availability | Mouse Genotype | ||||||||||||||||||||||||||||
Sox9Bbfc/Sox9+ | |||||||||||||||||||||||||||||
Sox9tm1.1Gsr/Sox9+ | |||||||||||||||||||||||||||||
Sox9tm1Crm/Sox9+ | |||||||||||||||||||||||||||||
Sox9tm2Crm/Sox9tm2Crm Tg(Col2a1-cre)1Bhr/0 (conditional) |
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Sox9tm2Crm/Sox9tm2Crm H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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Sox9tm2Crm/Sox9+ H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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 04/16/2024 MGI 6.23 |
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