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Symbol
Name
ID
Kmt2d
lysine (K)-specific methyltransferase 2D
MGI:2682319
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
Abnormal vertebral morphology
Abnormal form of the vertebral bodies
Hemivertebrae
Vertebral clefting
Butterfly vertebrae
Scoliosis
Joint hypermobility
Joint hyperflexibility
Joint laxity
Disease(s) Associated with KMT2D
Kabuki syndrome

Mouse Phenotypes
short maxilla
Availability Mouse Genotype
Kmt2dGt(RRT024)Byg/Kmt2d+

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
09/10/2019
MGI 6.14
The Jackson Laboratory