Symbol Name ID |
Kmt2d
lysine (K)-specific methyltransferase 2D MGI:2682319 |
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 KMT2D | ||||||||||||||||||
Kabuki syndrome |
Mouse Phenotypes | abnormal basicranium morphology |
abnormal basisphenoid bone morphology |
small basisphenoid bone |
abnormal neurocranium morphology |
short frontal bone |
abnormal presphenoid bone morphology |
small presphenoid bone |
abnormal pterygoid process morphology |
abnormal temporal bone tympanic part morphology |
abnormal viscerocranium morphology |
abnormal hyoid bone morphology |
mandibular condyloid process hypoplasia |
mandible hypoplasia |
short maxilla |
short nasal bone |
abnormal palatine bone morphology |
domed cranium |
abnormal osteoblast morphology |
abnormal chondrocyte morphology |
abnormal endochondral bone ossification |
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Availability | Mouse Genotype | ||||||||||||||||||||
Kmt2dGt(RRT024)Byg/Kmt2d+ | |||||||||||||||||||||
H2az2Tg(Wnt1-cre)11Rth/H2az2+ Kmt2dtm2.1Kaig/Kmt2dtm2.1Kaig (conditional) |
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Kmt2dtm2.1Kaig/Kmt2dtm2.1Kaig Tg(Sox10-cre)1Wdr/0 (conditional) |
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H2az2Tg(Wnt1-cre)11Rth/H2az2+ Kmt2dtm2.1Kaig/Kmt2d+ (conditional) |
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 05/14/2024 MGI 6.23 |
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