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Symbol
Name
ID
Kdm6a
lysine (K)-specific demethylase 6A
MGI:1095419
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Microcephaly
Short 5th finger
Short middle phalanx of finger
Prominent fingertip pads
Brachydactyly
Small hand
Hip dislocation
Congenital hip dislocation
Joint hypermobility
Hip dysplasia
Scoliosis
Abnormal vertebral morphology
Abnormal form of the vertebral bodies
Hemivertebrae
Vertebral clefting
Butterfly vertebrae
Joint dislocation
Disease(s) Associated with KDM6A
Kabuki syndrome

Mouse Phenotypes
cranioschisis
abnormal bone structure
Availability Mouse Genotype
Kdm6atm1.2Afst/Kdm6atm1.2Afst
Kdm6atm1.2Afst/Y
Kdm6atm1.1Afst/Kdm6atm1.1Afst
Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+  (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
03/12/2024
MGI 6.23
The Jackson Laboratory