|
Symbol Name ID |
Shank3
SH3 and multiple ankyrin repeat domains 3 MGI:1930016 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Delayed CNS myelination |
Ventriculomegaly |
Agenesis of corpus callosum |
Abnormal periventricular white matter morphology |
Cerebellar cortical atrophy |
Arachnoid cyst |
Reduced eye contact |
Delayed speech and language development |
Schizophrenia |
Atypical behavior |
Reduced social reciprocity |
Autistic behavior |
Autism |
Aggressive behavior |
Hyperactivity |
Motor stereotypy |
Bruxism |
Tongue thrusting |
Hair-pulling |
Hyperorality |
Intellectual disability |
Intellectual disability, moderate |
Sleep abnormality |
Hyporeflexia |
Broad-based gait |
Unsteady gait |
Global developmental delay |
Motor delay |
Seizure |
Impaired pain sensation |
| Disease(s) Associated with SHANK3 | |||||||||||||||||||||||||||||||
| Phelan-McDermid syndrome | |||||||||||||||||||||||||||||||
| schizophrenia 15 |
| Mouse Phenotypes | nervous system phenotype |
decreased susceptibility to pharmacologically induced seizures |
environmentally induced seizures |
abnormal brain white matter morphology |
abnormal brain commissure morphology |
abnormal brain internal capsule morphology |
abnormal cerebellar peduncle morphology |
abnormal cingulum morphology |
abnormal basal ganglion morphology |
abnormal striatum morphology |
abnormal medium spiny neuron morphology |
thalamus hyperplasia |
decreased amygdala size |
small hippocampus |
abnormal olfactory lobe morphology |
abnormal spinal cord commissure morphology |
abnormal dendritic spine morphology |
abnormal dendritic mushroom spine morphology |
decreased dendritic spine density |
abnormal dendritic thin spine morphology |
abnormal synapse morphology |
abnormal postsynaptic density morphology |
abnormal nervous system electrophysiology |
abnormal brain wave pattern |
abnormal single cell response |
abnormal neuron physiology |
impaired synaptic plasticity |
abnormal synaptic transmission |
abnormal CNS synaptic transmission |
abnormal excitatory postsynaptic currents |
decreased excitatory postsynaptic current amplitude |
decreased excitatory postsynaptic current frequency |
abnormal excitatory postsynaptic potential |
abnormal glutamate-mediated receptor currents |
reduced NMDA-mediated synaptic currents |
reduced long-term potentiation |
abnormal miniature excitatory postsynaptic currents |
abnormal miniature inhibitory postsynaptic current frequency |
increased miniature inhibitory postsynaptic current frequency |
decreased post-tetanic potentiation |
decreased prepulse inhibition |
abnormal long-term depression |
reduced long-term depression |
decreased synaptic depression |
abnormal paired-pulse inhibition |
decreased paired-pulse ratio |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||||||||
| Shank3em1Hzo/Shank3em1Hzo | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1.1Cya/Shank3tm1.1Cya | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1.1Pfw/Shank3tm1.1Pfw | * | ||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1.2Yhj/Shank3tm1.2Yhj | * | ||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1Cmpl/Shank3tm1Cmpl | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1d(KOMP)Mbp/Shank3tm1d(KOMP)Mbp | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1Yhj/Shank3tm1Yhj | * | ||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm2.1Bux/Shank3tm2.1Bux | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm2Cmpl/Shank3tm2Cmpl | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm2Gfng/Shank3tm2Gfng | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm3.1Gfng/Shank3tm3.1Gfng | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm3.2Cmpl/Shank3tm3.2Cmpl | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm4.1Gfng/Shank3tm4.1Gfng | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm5.1Gfng/Shank3tm5.1Gfng | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1.1Pfw/Shank3+ | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm1.2Bux/Shank3+ | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm2Cmpl/Shank3+ | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm3.1Gfng/Shank3+ | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm3.2Cmpl/Shank3+ | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm4.1Gfng/Shank3+ | |||||||||||||||||||||||||||||||||||||||||||||||
| Shank3tm5.1Gfng/Shank3tm5.1Gfng Tg(CAG-cre/Esr1*)1Lbe/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 04/30/2024 MGI 6.23 |
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