kmt2d Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-855724

Gene Symbol: kmt2d Gene Name: lysine methyltransferase 2D

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal development of heart (5 sources), abnormal heart morphology (4 sources), abnormal development of heart primordium (2 sources), abnormal neural crest morphology (2 sources), abnormal cartilage tissue morphology (1 source), abnormal cell migration in neural crest (1 source), abnormal craniofacial region morphology (1 source), abnormal craniofacial skeleton (1 source), abnormal development of primary heart field (1 source), abnormal development of secondary heart field (1 source), abnormal eye morphology (1 source), abnormal histone methylation (1 source), decreased size of the cranial skeleton (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

abnormal development of heart (5 sources), abnormal heart morphology (4 sources), abnormal development of heart primordium (2 sources), abnormal neural crest morphology (2 sources), abnormal cartilage tissue morphology (1 source), abnormal cell migration in neural crest (1 source), abnormal craniofacial region morphology (1 source), abnormal craniofacial skeleton (1 source), abnormal development of primary heart field (1 source), abnormal development of secondary heart field (1 source), abnormal eye morphology (1 source), abnormal histone methylation (1 source), decreased size of the cranial skeleton (1 source)

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Manual annotations: kmt2d manipulated (19 sources)

Diseases Diseases from the human disease ontology (DO) manually associated with phenotypes from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
Kabuki syndrome (12AP sources, 6 EP sources), congenital heart disease (9AP sources, 5 EP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + kmt2d MO (10 sources), Xla Wt + kmt2d MO (6 sources), Xla Wt + kmt2d MO (6 sources), Xla Wt + kmt2d MO (3 sources), Xla Wt + kmt2d MO (1 source), Xla Wt + kmt2d MO (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (96 sources): Abnormal cardiac septum morphology, Abnormal dermatoglyphics, Abnormal form of the vertebral bodies, Abnormal localization of kidney, Abnormal vertebral morphology, Abnormality of dental morphology, Abnormality of immune system physiology, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Blue sclerae, Butterfly vertebrae, Cafe-au-lait spot, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Coloboma, Conductive hearing impairment, Congenital diaphragmatic hernia, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Depressed nasal tip, Duplicated collecting system, EEG abnormality, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hip dislocation, Hirsutism, Hydrocephalus, Hydronephrosis, Hypodontia, Hypoplasia of penis, Hypospadias, Hypotonia, Intellectual disability, Intestinal malrotation, Joint hypermobility, Lip pit, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Mask-like facies, Microcephaly, Microcornea, Microdontia, Micropenis, Nystagmus, Obesity, Orofacial cleft, Posteriorly rotated ears, Preauricular pit, Preauricular skin tag, Precocious puberty, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Renal hypoplasia/aplasia, Scoliosis, Seizure, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Small hand, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vertebral clefting, Wide nasal bridge, Widely spaced teeth, obsolete Joint hyperflexibility, obsolete Sparse and thin eyebrow [+]
Mouse (40 sources): abnormal brown fat cell differentiation, abnormal dentate gyrus morphology, abnormal fetal cardiomyocyte morphology, abnormal heart echocardiography feature, abnormal heart tube morphology, abnormal hippocampus granule cell layer, abnormal inner ear canal morphology, abnormal motor capabilities/coordination/movement, abnormal object recognition memory, abnormal pinna reflex, absent head fold, absent somites, cardiovascular system phenotype, decreased IgG1 level, decreased brown adipose tissue amount, decreased coping response, decreased fetal cardiomyocyte proliferation, decreased follicular B cell number, decreased mature B cell number, decreased muscle weight, embryonic growth retardation, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality during organogenesis, complete penetrance, flattened snout, hyporesponsive to tactile stimuli, immune system phenotype, impaired contextual conditioning behavior, impaired righting response, impaired spatial learning, increased B cell proliferation, increased germinal center B cell number, increased grooming behavior, increased spleen germinal center number, increased spleen germinal center size, increased vertical activity, neonatal lethality, complete penetrance, pericardial edema, short maxilla, short stride length, thin myocardium compact layer [+]
View all ortholog results at Monarch