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Symbol
Name
ID
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
MGI:99511
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Clinodactyly of the 5th finger
Brachydactyly
Abnormal metaphysis morphology
Radioulnar synostosis
Joint hypermobility
Delayed skeletal maturation
Avascular necrosis
Bone pain
Abnormal epiphysis morphology
Enlarged thorax
Pectus carinatum
Pectus excavatum
Scoliosis
Osteopenia
Multiple enchondromatosis
Exostoses
Disease(s) Associated with PTPN11
metachondromatosis
Noonan syndrome

Mouse Phenotypes
skeleton phenotype
abnormal cranium size
decreased cranium height
decreased cranium length
small cranium
abnormal mandible morphology
absent mandible
micrognathia
abnormal nasal bone morphology
absent craniofacial bones
absent nasal capsule
abnormal nasal cartilage morphology
short femur
abnormal vertebral column morphology
abnormal spine curvature
kyphosis
kyphoscoliosis
lordosis
scoliosis
abnormal vertebral epiphyseal plate morphology
exostosis
ectopic cartilage
Availability Mouse Genotype
Ptpn11tm7Bgn/Ptpn11tm7Bgn
Ptpn11tm1.1Ics/Ptpn11+
Ptpn11tm1Bgn/Ptpn11+
Ptpn11tm4.2Bgn/Ptpn11+
Ptpn11tm7Bgn/Ptpn11+
Ptpn11tm1.1Rbns/Ptpn11tm1.1Rbns
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Ptpn11tm1Gsf/Ptpn11tm1Gsf
Tg(Col2a1-cre/ERT2)1Dic/0  (conditional)
*
Ptpn11tm6Bgn/Ptpn11+
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)

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
06/12/2024
MGI 6.13
The Jackson Laboratory