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

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

Availability

Mouse Genotype

Kmt2d^{Gt(RRT024)Byg}/Kmt2d⁺

H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig (conditional)

Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig
Tg(Sox10-cre)1Wdr/0 (conditional)

H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Kmt2d^tm2.1Kaig/Kmt2d⁺ (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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