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Symbol
Name
ID
Pten
phosphatase and tensin homolog
MGI:109583
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Biparietal narrowing
Dolichocephaly
Micrognathia
Hypoplasia of the maxilla
Macrocephaly
Postnatal macrocephaly
Progressive macrocephaly
Broad thumb
Preaxial hand polydactyly
Foot polydactyly
Joint hypermobility
Delayed skeletal maturation
Pectus excavatum
Kyphosis
Scoliosis
Disease(s) Associated with PTEN
Bannayan-Riley-Ruvalcaba syndrome
macrocephaly-autism syndrome

Mouse Phenotypes
abnormal long bone morphology
abnormal long bone hypertrophic chondrocyte zone
abnormal long bone epiphysis morphology
kyphosis
abnormal bone structure
abnormal bone marrow cavity morphology
increased bone mineral density
abnormal cartilage morphology
abnormal chondrocyte morphology
ectopic cartilage
abnormal epiphyseal plate morphology
Availability Mouse Genotype
Ptentm2Mak/Ptentm2Mak
Tg(Col2a1-cre)1Xya/?  (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
04/16/2024
MGI 6.23
The Jackson Laboratory