Analysis Tools|
Allele Symbol Allele Name Allele ID |
Emx1tm1(cre)Ito targeted mutation 1, Shigeyoshi Itohara MGI:1928281 |
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| Summary |
19 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• selective restoration of 5HT2AR signaling to the cortex normalized conflict anxiety behaviors
• exhibited wild-type levels of anxiety-like behavior as measured by the open field test, dark-light choice test, and novelty suppressed feeding paradigm
• depression-related paradigms, such as the forced swim test and tail suspension test, were unchanged compared to un-restored homozygous null litter mate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• despite abnormal barrel cortex morphology, lesion-induced plasticity of the thalamocortical axonal pattern and synaptic release efficacy are normal
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• while gross barrel patterning is normal, barrel wall formation is disrupted
• dendritic orientation of layer IV neurons in the barrel cortex is impaired and dendritic span is increased compared to in wild-type micedendritic orientation of layer IV neurons in the barrel cortex is impaired and dendritic span is increased compared to in wild-type mice
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• during thalamocorical synapse development
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• AMPA receptor mini-excitatory postsynaptic currents of thalamocortical synapses are smaller than in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• dilated Golgi cisternae on the trans side of the Golgi stack in hippocampal CA3 pyramidal neurons and dentate gyrus granule cells
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| N |
• normal synaptic vesicle density and length of postsynaptic density in dentate gyrus granule cells
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• dilated Golgi cisternae on the trans side of the Golgi stack in dentate gyrus granule cells
• reduction of dense core vesicle density in the presynaptic terminal in dentate gyrus granule cells
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• dilated Golgi cisternae on the trans side of the Golgi stack in hippocampal CA3 pyramidal neurons
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• reduction of dense core vesicle density in the presynaptic terminal in dentate gyrus granule cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lack of ependymal cilia in the whole dorsal telencephalon, including the anterior and posterior region
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• lack of ependymal cilia in the whole dorsal telencephalon, including the anterior and posterior region
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• at P10
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• lack of ependymal cilia in the whole dorsal telencephalon, including the anterior and posterior region
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice lack corticospinal axons in the pons
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pituitary gland is sphere-shaped
• gland is composed of round cells only and lacks columnar cells
• cells expressing proopiomelanocortin (POMC) are all round, characteristic of pituitary anterior lobe cells whereas in wild-type, both round and columnar cells (in intermediate lobe) express POMC
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• growth hormone-producing cells are slightly increased in number
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• at E18, neurohypophysis is lost in mutants, but is formed normally in wild-type and Hes1-null animals
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• at E12.5, evagination of the infundibulum is affected compared to control embryos
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• at E18, there are decreased numbers of pituitary gland progenitor cells compared to wild-type, shown by proliferation assays
• no apoptosis is observed
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• lumen of Rathke's pouch is absent
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• at E18, pituitary gland is severely hypoplastic
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• intermediate lobe is absent
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• pituitary gland is sphere-shaped
• gland is composed of round cells only and lacks columnar cells
• cells expressing proopiomelanocortin (POMC) are all round, characteristic of pituitary anterior lobe cells whereas in wild-type, both round and columnar cells (in intermediate lobe) express POMC
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• growth hormone-producing cells are slightly increased in number
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• at E18, neurohypophysis is lost in mutants, but is formed normally in wild-type and Hes1-null animals
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• at E12.5, evagination of the infundibulum is affected compared to control embryos
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• at E18, there are decreased numbers of pituitary gland progenitor cells compared to wild-type, shown by proliferation assays
• no apoptosis is observed
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• lumen of Rathke's pouch is absent
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• at E18, pituitary gland is severely hypoplastic
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• intermediate lobe is absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit accelerated differentiation of neurons compared to in wild-type mice, including Cajal-Retzius cells in the dorsal telencephalon
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• unlike in wild-type mice, at E11.5 and E12.5 dorsal midline cells do not flatten and remain pseudostratified
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• mice exhibit mild abnormalities in the cortical hem and cortical neuroepithelium
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• at E11.5 and E12.5, the number of Cajal-Retzius cells in the marginal zone of the piriform cortex is increased compared to in wild-type mice
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• unlike in wild-type mice, at E11.5 and E12.5 dorsal midline cells do not flatten and remain pseudostratified
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• mice exhibit accelerated differentiation of neurons compared to in wild-type mice, including Cajal-Retzius cells in the dorsal telencephalon
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between P18-21
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• enlarged lateral ventricles are observed at both P5 and P11
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• cortex is thinner than controls
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• lamination of the olfactory bulb is highly disrupted
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• olfactory bulb mitral cell layer is absent
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• mice exhibit widespread neuronal death and degeneration
• widespread pyknotic nuclei are observed within the cortical plate
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• small size is observed as early as postnatal day 3
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• pups exhibit a slower growth rate than littermates
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• low body weight is observed as early postnatal day 3
• average weight is less than half of controls by P14
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• thalamocortical afferents corresponding to large whiskers form patterns and display critical period plasticity but their pattering is not as well defined as in controls
• thalamocortical patterns corresponding to sinus hairs and digits are mostly absent
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• dendritic fields of spiny stellate cells do not orient toward thalamocortical axon terminal patches, instead they radiate in all directions covering larger territories, exhibiting profuse branching with increased spine density
• cortex thalamocortical axons form smaller patches and individual axon terminal branching is not as well developed as in controls
• septal areas between thalamocortical axon patches are enlarged
• decreased total axonal length, number of branches (by about 50%) and lateral:vertical field span ratio of thalamocortical axons
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• barrels and barrel boundaries do not develop even at sites where thalamocortical afferents cluster
(J:64064)
• layer IV cells of the somatosensory cortex fail to segregate into barrels
(J:80900)
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• barrel cortex lacks NMDA receptor-mediated excitation
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• average body weight was about 70% of that of controls at P7
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• low growth rate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• severe dysmyelination in cortex while ventral forebrain is normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• adverse affect on neuron migration
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• mild cellular disorganization in the ventricular zone of the cortex at E12.5
• becoming more extreme at E16.5
• normal cellular organization at the level of the 3rd ventricle where cre is not expressed
• cortex thickness and lamination are normal at E16.5
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• spindle orientation in cortical progenitor cells tends to shift from horizontal to oblique
• vertical spindle orientation is normal
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• increased number of mitotic cells in cortex with basal location rather than apical location
• apically located proliferating cells are also increased
• increased number of mitotic cells in cortex over all
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• adverse affect on neuron migration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer than expected mice are present at P18 but the remainder of mice survive into adulthood
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• fewer than expected mice are present at P18
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• mice exhibit reduced formation of interhemispheric commissural connections by inhibition of midline crossing
• however, the posterior and habenular commissures are normal
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• myelinated fibers are reduced in the corpus callosum and anterior commissure compared to in control (Rac1tm1Atai/Rac1+ Emx1tm1(cre)Ito/Emx1+) mice
• retrograde dye labeling experiments demonstrate that contralateral projections of the callosal commissural axons are absent
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• myelinated fibers are reduced in the corpus callosum and anterior commissure compared to in control (Rac1tm1Atai/Rac1+ Emx1tm1(cre)Ito/Emx1+) mice
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• neuron layers of the telencephalon cortex are thinner than in heterozygous controls (Rac1tm1Atai/Rac1+ Emx1tm1(cre)Ito/Emx1+) with sporadic distortions caused by abnormal cell clusters and nerve fibers
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• the dentate gyrus is disorganized
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• the pyramidal cell layer of the hippocampus is thinner than in control (Rac1tm1Atai/Rac1+ Emx1tm1(cre)Ito/Emx1+) mice
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• somatosensory cortex barrels are small in size and irregular in shape compared to in control (Rac1tm1Atai/Rac1+ Emx1tm1(cre)Ito/Emx1+) mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no gross abnormality in cortical lamination
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal telencephalon development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• neuronal progenitor cell death is seen at E12
• however, proliferation of neuronal progenitor cells is not affected
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• neuronal progenitor cell death is seen at E12
• however, proliferation of neuronal progenitor cells is not affected
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• decrease in cortical size, although cortical structure is preserved
• cortical atrophy is already seen at E12 and the cerebral cortex is atrophied in adulthood
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• the number of Tbr2+ subventricular zone progenitors is decreased
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:211789 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• depression-like phenotype is not significantly different from wild-type but is significantly improved compared to BACHD (Tg(HTT*97Q)IXwy) mice
• anxiety response is significantly improved compared to BACHD mice
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• mice show rotarod impairment relative to wild-type at 6 and 12 months; significant partial improvement is observed by 6 months compared to BACHD mice
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• reduced movement is observed at 12 months compared to wild-type; significant partial improvement in the open-field is observed at 12 months compared to BACHD mice
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| N |
• no significant difference is observed in forebrain weight or cortical or striatal volume between either wild-type or BACHD mice
• evoked synaptic NMDA currents in medium spiny neurons (MSNs) in striatal slices from 13-15 month-old mice are not significantly different from wild-type; normalized amplitudes of currents are not significantly different
• spontaneous excitatory postsynaptic currents (sEPSCs) and spontaneous inhibitory postsynaptic currents (sEPSCs) in striatal medium spiny neurons (MSNs) are improved relative to BACHD neurons
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• depression-like phenotype is not significantly different from wild-type but is significantly improved compared to BACHD (Tg(HTT*97Q)IXwy) mice
• anxiety response is significantly improved compared to BACHD mice
• significant, consistent improvement is observed in hypoactivity phenotype at 6 and 12 months compared to BACHD mice
• significant, consistent improvement in coordination is observed at 6 and 12 months compared to BACHD mice
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| N |
• forebrain weight loss and cortical/striatal volume loss are improved relative to BACHD (Tg(HTT*97Q)IXwy) mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice have comparable locomotor activity to wild-type controls
• gliosis levels are comparable to wild-type
• dendrites with abnormal or wavy morphology occur with similar frequency in mutants and wild-type controls
• very few neurons showing early stages of degeneration are observed
• electrophysiology such as sIPSCs from cortical neurons are normal relative to controls
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | Huntington's disease | DOID:12858 |
OMIM:143100 |
J:99759 |
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 12/10/2024 MGI 6.24 |
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