Symbol Name ID |
Nr2f1
nuclear receptor subfamily 2, group F, member 1 MGI:1352451 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Optic nerve hypoplasia |
Spasticity |
Delayed myelination |
Hypoplasia of the corpus callosum |
Abnormal hippocampus morphology |
Absent speech |
Autistic behavior |
Autism |
Compulsive behaviors |
Attention deficit hyperactivity disorder |
Repetitive compulsive behavior |
Intellectual disability |
Global developmental delay |
Seizure |
Disease(s) Associated with NR2F1 | ||||||||||||||
Bosch-Boonstra-Schaaf optic atrophy syndrome |
Mouse Phenotypes | nervous system phenotype |
abnormal axon guidance |
abnormal cochlear hair cell development |
increased cochlear hair cell number |
increased cochlear inner hair cell number |
increased cochlear outer hair cell number |
abnormal orientation of inner hair cell stereociliary bundles |
abnormal orientation of outer hair cell stereociliary bundles |
abnormal brain commissure morphology |
abnormal corpus callosum morphology |
abnormal hippocampal commissure morphology |
abnormal anterior commissure morphology |
abnormal dorsal striatum morphology |
abnormal cingulate gyrus morphology |
decreased hippocampus volume |
abnormal cerebral cortex morphology |
increased neocortex volume |
abnormal primary somatosensory cortex morphology |
abnormal barrel cortex morphology |
absent barrels in primary somatosensory cortex |
abnormal neuron morphology |
abnormal axon morphology |
abnormal glossopharyngeal ganglion morphology |
impaired synaptic plasticity |
reduced long-term potentiation |
abnormal long-term depression |
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Availability | Mouse Genotype | ||||||||||||||||||||||||||
Nr2f1tm1Mist/Nr2f1tm1Mist | |||||||||||||||||||||||||||
Nr2f1tm1Mjts/Nr2f1tm1Mjts | * | ||||||||||||||||||||||||||
Nr2f1tm1Mjts/Nr2f1+ | |||||||||||||||||||||||||||
Nr2f1tm2.1Mist/Nr2f1tm2.1Mist Emx1tm1(cre)Krj/Emx1+ (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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