Symbol
Name
ID

Kmt2d
lysine (K)-specific methyltransferase 2D
MGI:2682319

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Lateral ventricle dilatation

Hydrocephalus

Ventriculomegaly

Cerebral cortical atrophy

EEG abnormality

Dysarthria

Atypical behavior

Intellectual disability

Intellectual disability, mild

Global developmental delay

Seizure

Bilateral tonic-clonic seizure with focal onset

Focal impaired awareness seizure

Disease(s) Associated with KMT2D

Kabuki syndrome

Mouse Phenotypes		impaired neuron differentiation	abnormal cranial neural crest cell morphology	abnormal dentate gyrus morphology	abnormal hippocampus granule cell layer	decreased neuron number
Availability	Mouse Genotype	impaired neuron differentiation	abnormal cranial neural crest cell morphology	abnormal dentate gyrus morphology	abnormal hippocampus granule cell layer	decreased neuron number
	Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺
	Kmt2d^tm1.1Kaig/Kmt2d^tm1.1Kaig Tg(Nkx2-1-cre)2Sand/0 (conditional)
	H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig (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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