|
Symbol Name ID |
Sox9
SRY (sex determining region Y)-box 9 MGI:98371 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Micrognathia |
Macrocephaly |
Relative macrocephaly |
Wide anterior fontanel |
Short neck |
Bowing of the long bones |
Femoral bowing |
Tibial bowing |
Anterior tibial bowing |
Short 1st metacarpal |
Short phalanx of finger |
Shortening of all phalanges of fingers |
Contracture of the distal interphalangeal joint of the fingers |
Hallux valgus |
Shortening of all phalanges of the toes |
Fibular hypoplasia |
Metatarsus adductus |
Patellar hypoplasia |
Dislocated radial head |
Hip dislocation |
Joint hypermobility |
Recurrent fractures |
Delayed epiphyseal ossification |
Short long bone |
Hypoplastic iliac wing |
Narrow iliac wing |
Hypoplastic inferior ilia |
11 pairs of ribs |
Thin ribs |
Hypoplastic scapulae |
Small abnormally formed scapulae |
Absent sternal ossification |
Pectus carinatum |
Thoracic scoliosis |
Thoracic hypoplasia |
Narrow chest |
Cervical kyphosis |
Kyphosis |
Kyphoscoliosis |
Scoliosis |
Hypoplastic cervical vertebrae |
Poorly ossified cervical vertebrae |
Cervical spine instability |
| Disease(s) Associated with SOX9 | ||||||||||||||||||||||||||||||||||||||||||||
| campomelic dysplasia |
| Mouse Phenotypes | skeleton phenotype |
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 |
absent nasal capsule |
abnormal humerus morphology |
absent deltoid tuberosity |
short humerus |
bowed radius |
short radius |
bowed ulna |
short ulna |
bowed fibula |
bowed tibia |
abnormal laryngeal cartilage morphology |
absent thyroid cartilage |
abnormal tracheal cartilage morphology |
abnormal long bone morphology |
increased width of hypertrophic chondrocyte zone |
abnormal scapula morphology |
abnormal scapular spine morphology |
small scapula |
scapular bone hypoplasia |
abnormal sternum morphology |
abnormal sternebra morphology |
abnormal xiphoid process morphology |
absent sternum |
short sternum |
abnormal pelvic girdle bone morphology |
abnormal ilium morphology |
abnormal ischium morphology |
abnormal pubis morphology |
small pubis |
small thoracic cage |
kyphosis |
abnormal vertebrae morphology |
abnormal vertebrae development |
abnormal vertebral body morphology |
abnormal cartilage development |
absent cartilage |
abnormal skeleton development |
abnormal epiphyseal plate morphology |
chondrodystrophy |
abnormal bone ossification |
abnormal bone mineralization |
abnormal endochondral bone ossification |
delayed endochondral bone ossification |
premature endochondral bone ossification |
premature bone ossification |
abnormal chondrocyte physiology |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tg(Prrx1-Sox9,-lacZ)1Haak/Tg(Prrx1-Sox9,-lacZ)1Haak | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sox9Bbfc/Sox9+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sox9tm1.1Gsr/Sox9+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sox9tm1.2Ksec/Sox9+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sox9tm1Crm/Sox9+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sox9tm1Gsr/Sox9tm1Gsr Krt19tm1(cre)Mmt/Krt19+ (conditional) |
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| Sox9tm1Gsr/Sox9tm1Gsr Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0 (conditional) |
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| Sox9tm2Crm/Sox9tm2Crm Tg(Col2a1-cre)1Bhr/0 (conditional) |
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| Sox9tm2Crm/Sox9tm2Crm Tg(Prrx1-cre)1Cjt/0 (conditional) |
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| Sox9tm2Crm/Sox9tm2Crm H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Sox9tm3.1Tlu/Sox9tm3.1Tlu Tg(Col2a1-cre)1Bhr/0 (conditional) |
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| Sox9tm4.1Tlu/Sox9tm4.1Tlu Tg(Col2a1-cre)1Bhr/0 (conditional) |
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| Col10a1tm1(cre)Haak/Col10a1+ Tg(CAG-mRFP1,-SOX9,-EGFP)1Haak/0 (conditional) |
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| Sox9tm2Crm/Sox9+ Tg(Col2a1-cre)1Bhr/0 (conditional) |
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| Sox9tm2Crm/Sox9+ Tg(Prrx1-cre)1Cjt/0 (conditional) |
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| Sox9tm4.1Tlu/Sox9+ Tg(Col2a1-cre)1Bhr/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tg(CAG-mRFP1,-SOX9,-EGFP)1Haak/0 Tg(Col2a1-cre)1Bhr/0 (conditional) |
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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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