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Symbol Name ID |
Setdb1
SET domain, bifurcated 1 MGI:1934229 |
| Darker colors indicate more annotations |
| Human Phenotypes | EEG abnormality |
Abnormal nonverbal communicative behavior |
Delayed speech and language development |
Lack of spontaneous play |
Impaired ability to form peer relationships |
Autism |
Inflexible adherence to routines |
Motor stereotypy |
Restrictive behavior |
Intellectual disability |
Seizure |
| Disease(s) Associated with SETDB1 | |||||||||||
| autistic disorder |
| Mouse Phenotypes | increased neuron apoptosis |
abnormal neuron differentiation |
abnormal neuronal precursor proliferation |
abnormal telencephalon development |
abnormal cortical plate morphology |
abnormal cerebral cortex morphology |
loss of cortex neurons |
abnormal astrocyte morphology |
abnormal nervous system development |
decreased neuronal precursor cell number |
decreased neuron number |
increased neuron number |
abnormal excitatory postsynaptic potential |
abnormal NMDA-mediated synaptic currents |
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| Availability | Mouse Genotype | ||||||||||||||
| Tg(Camk2a-Setdb1)1Akba/0 | |||||||||||||||
| Setdb1tm1.1Yshk/Setdb1tm1.1Yshk Emx2tm2(cre)Sia/Emx2+ (conditional) |
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| Setdb1tm1.1Yshk/Setdb1tm1.1Yshk Tg(Nes-cre)1Kag/0 (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 04/23/2024 MGI 6.23 |
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