|
Symbol Name ID |
Kmt2d
lysine (K)-specific methyltransferase 2D MGI:2682319 |
| Darker colors indicate more annotations |
| Human Phenotypes | Micrognathia |
Microcephaly |
Mask-like facies |
Preauricular pit |
Preauricular skin tag |
Lower lip pit |
Lip pit |
Cleft palate |
High palate |
Abnormality of the dentition |
Abnormal dental morphology |
Microdontia |
Hypodontia |
Natal tooth |
Dental malocclusion |
Widely spaced teeth |
Orofacial cleft |
Short columella |
Broad nasal tip |
Depressed nasal tip |
Wide nasal bridge |
Sparse eyebrow |
Sparse lateral eyebrow |
Highly arched eyebrow |
Long eyelashes |
Prominent eyelashes |
Long palpebral fissure |
Eversion of lateral third of lower eyelids |
Epicanthus |
| 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 palatal shelf morphology |
broad face |
face hypoplasia |
cleft palate |
glossoptosis |
abnormal snout morphology |
flattened snout |
abnormal ear shape |
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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) |
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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 04/16/2024 MGI 6.23 |
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