|
Symbol Name ID |
Ehmt1
euchromatic histone methyltransferase 1 MGI:1924933 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Ventriculomegaly |
Cerebral cortical atrophy |
Agenesis of corpus callosum |
Delayed speech and language development |
Atypical behavior |
Apathy |
Autistic behavior |
Autism |
Aggressive behavior |
Compulsive behaviors |
Motor stereotypy |
Self-injurious behavior |
Self-mutilation |
Intellectual disability |
Intellectual disability, severe |
Sleep abnormality |
Developmental regression |
Global developmental delay |
Seizure |
| Disease(s) Associated with EHMT1 | ||||||||||||||||||||
| Kleefstra syndrome 1 |
| Mouse Phenotypes | nervous system phenotype |
open neural tube |
abnormal hippocampus pyramidal cell morphology |
abnormal dendrite morphology |
abnormal dendritic spine morphology |
abnormal optic disk morphology |
impaired synaptic plasticity |
abnormal miniature excitatory postsynaptic currents |
enhanced paired-pulse facilitation |
|
| Availability | Mouse Genotype | |||||||||
| Ehmt1tm1Yshk/Ehmt1tm1Yshk | ||||||||||
| Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+ | ||||||||||
| Ehmt1tm1Yshk/Ehmt1+ | ||||||||||
| Ehmt1tm1.1Tara/Ehmt1tm1.1Tara Tg(Camk2a-cre)2Gsc/0 (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 04/30/2024 MGI 6.23 |
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