Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tg(Nes-cre)1Kag transgene insertion 1, Ryoichiro Kageyama MGI:2176222 |
| Summary |
15 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• extensive brain accumulation of glycogen
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• extensive brain accumulation of glycogen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• context freezing response is significantly reduced
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• cued fear conditioning response is reduced after a 48 h retention delay
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• resident males show a shorter latency to attack and attack for a longer duration with a higher frequency
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• spend more time in the center of an open field and spend more time in the open arms of a plus maze compared to controls
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• fail to show a preference for a novel mouse
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• decrease in interaction with a novel object compared to controls
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• pups are more scattered in the home cage
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• show a significantly shorter duration of crouching to keep the pups warm and to nurse them
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• show little nest building activity and build shallower nest compared to controls
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• males display persistent interest when presented with the same female indicating a failure to develop social memory
• fail to show a preference for a novel mouse
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• in an open field test for social versus inanimate preference, mice show no significant difference in time spent interacting with the social or inanimate targets unlike controls
• in a sociability test for social versus empty preference, mice show a significant decrease in interaction with the social target compared to controls
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• in the cortices at 13 weeks of age
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| N |
• no defect in olfaction is detected
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:176051 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• only 35% of the expected Mendelian numbers are born
• those that were born survived well into adulthood
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• smaller dendrite arbors resulting in more densely packed neurons in all layers of cortex in 6-8 weeks old mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice injected with alpha-synuclein preformed fibrils show preservation of dopamine neurons and rescue of the loss of dopamine and striatal fiber density and show rescue of the pole test performance deficits and rotarod and cylinder test behavioral defects that are seen in alpha-synuclein preformed fibril injected wild-type mice
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| N |
• mice injected with alpha-synuclein preformed fibrils show rescue of the pole test performance deficits (increased time to turn and time to reach the base), and behavioral defects in the rotarod and cylinder test that are seen in wild-type mice injected with alpha-synuclein preformed fibrils
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| N |
• mice injected with alpha-synuclein preformed fibrils show preservation of dopamine neurons and rescue of the loss of dopamine and striatal fiber density that is seen in alpha-synuclein preformed fibril injected wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice injected with an adenovirus expressing tTA into the ventral midbrain and then treated with doxycycline show rescue of the nigral degeneration of dopamine neurons and loss of dopamine seen in single Tg(tetO/Prnp-SNCA*A53T)4360Tmd/0 mice
• mice injected with an adenovirus expressing tTA into the ventral midbrain show prevention of the amphetamine-induced rotation, indicating that the dopamine neurons are functionally spared
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E13.5, E15.5, E18.5, fewer progenitors exit the cell cycle compared with wild-type mice
• at E18.5, proliferation of neuronal precursors is increased compared to in wild-type mice
• at E18.5, the length of the cycle is lengthened compared to in wild-type cells
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• brains contain ectopic cellular clusters in differentiated striatal regions unlike in wild-type mice
• however, no abnormalities are observed at E15.5
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• poorly developed
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• the cortex exhibits an increase in cellular density and decrease in intervening neuropil compared to in wild-type mice
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• laminar organization is altered with no clearly identifiable superficial neuron layers compared to in wild-type mice
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• very small
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• in the germinal layers
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• at E13.5, E15.5, E18.5, fewer progenitors exit the cell cycle compared with wild-type mice
• at E18.5, proliferation of neuronal precursors is increased compared to in wild-type mice
• at E18.5, the length of the cycle is lengthened compared to in wild-type cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal formation of the cortical hem and the hippocampal primordium in the medial cortex
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• moderate at E15.5
• however, size is normal at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased mortality before 10 weeks of age
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• although normal at birth, mice are growth retarded at 3 weeks of age
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• reduced in size
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• severe reductions in the thickness of the cerebral cortex
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• body weight gradually increases after 20 weeks of age, becoming significantly greater than littermate controls by 27 weeks of age
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• increase in visceral fat
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no neurodegeneration in brains
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• reduced induction of seizures by Kainic acid
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• modest seizure response following train stimulation of CA3-CA1 synapse
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| N |
• autophagy is not impaired
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• reduced induction of seizures by Kainic acid
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• modest seizure response following train stimulation of CA3-CA1 synapse
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced induction of seizures by Kainic acid
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• modest seizure response following train stimulation of CA3-CA1 synapse
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• modest neurodegeneration in brains
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• modest level of autophagy
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• reduced induction of seizures by Kainic acid
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• modest seizure response following train stimulation of CA3-CA1 synapse
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• modest level of autophagy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are born phenotypically normal with a near-Mendelian incidence (30% vs. 25% expected); however, all mice die prior to weaning within 3 to 4 weeks after birth (P18-P24)
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• at P7, P10 and P13, mice show a significant reduction in average body weight relative to controls
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• by P5-P7, mice exhibit noticeably retarded growth rates relative to controls
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• at P15, mice exhibit broad-base stance/gait pattern
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• at P15, mice show a marked decrease in brain vascularization relative to controls
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• at P15, an unusually large amount of cerebrospinal fluid (CSF) is drained out from the mutant skull during brain isolation
• CSF accumulation in the skull results in brain swelling and enlarged brain hemispheres
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• hydrocephalus is likely caused by a blocked connection between the third and fourth ventricles
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• the rostral segment of the aqueduct of Sylvius is abnormally narrow or completely collapsed
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• at P15, mutant brains are noticeably larger than control brains
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• hydrocephalic mice show major defects in the ependymal layer accompanied by a severe denudation of ependymal layers lining the ventricular wall
• N-cadherin immune-staining confirmed defects in ependymal layer integrity
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• at P14-18, immunostaining with anti-acetylated tubulin revealed a severe reduction or absence of ependymal cilia in the lateral ventricles
• SEM micrographs confirmed that the surface of ependymal cells lining the lateral ventricles is relatively smooth and lacks the numerous fine projections seen in controls
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• at 3 weeks of age, hydrocephalic mice show markedly enlarged ventricles in both anterior and posterior regions of lateral ventricles
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• in hydrocephalic mice, dilation of the fourth ventricle is observed
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• at 3 weeks of age, H&E-stained coronal brain sections revealed visibly dilated lateral ventricles along their entire rostrocaudal aspect
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• in hydrocephalic mice, the choroid plexus displays an undefined border with disrupted cell alignment between adjacent cells
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• in hydrocephalic mice, a unique type of columnar cells is absent in the rostral aqueduct wall due to aqueduct atresia and stenosis
• an enlarged lumen is noted in the caudal part of the aqueduct
• abnormal multilayered stratification of the ependymal cells lining along the caudal part of the aqueduct wall and increased cell numbers in the periaqueductal gray regions are observed
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• hydrocephalic mice show a profound reduction in the corpus callosum
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• hydrocephalic mice show a profound reduction in the caudate putamen
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• strikingly, hydrocephalic mice show absence of hippocampal formation
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• the spatial alignment and relation of cortical cell orientation are disrupted and compressed by the enlargement of the ventricle system
• however, no significant morphological deterioration is noted in anterior regions of the frontal cortex
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• hydrocephalic brains exhibit reduced thickness of the cerebral cortex along its rostral and caudal parts
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• hydrocephalic mice show a profound reduction in the cortical layers and septum
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• Ki-67 staining revealed a significant decrease in cell proliferation in the subventricular zone relative to control mice
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• GFAP staining revealed a marked increase in astrocyte density in the cerebral cortex and surrounding areas of the lateral ventricular regions, indicating astrogliosis
• mutant astrocytes tend to have an enlarged cell body and thicker processes than control astrocytes
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• at ~P10, mice develop a dome shaped skull morphology that becomes more prominent by P15
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• at P15, mice display abnormal curvature of the thoracic vertebrae
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• at ~P10, mice develop a dome shaped skull morphology that becomes more prominent by P15
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• at P15, mice show a marked decrease in brain vascularization relative to controls
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• at P14-18, immunostaining with anti-acetylated tubulin revealed a severe reduction or absence of ependymal cilia in the lateral ventricles
• SEM micrographs confirmed that the surface of ependymal cells lining the lateral ventricles is relatively smooth and lacks the numerous fine projections seen in controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice have a normal life span and display no obvious defects in external morphology, weight, reproductive vigor, or behavior relative to wild-type controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• density of blood vessels is reduced
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• in adults
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• in adults
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• thinner than in controls at E19
• dense nuclei found with a wavy architecture
• apoptotic neural and glial cells detected
• atrophy of the cerebral cortex in adults
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• significant reduction of neurons at 10 weeks of age although six layered structure of the cortex is maintained
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• 36% reduction of neurons at 10 weeks of age
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• 36% loss of neurons in the perirhinal cortex at 10 weeks of age
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• 12% reduction of neurons on the dorsal side
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| N |
• spontaneous activity is normal
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• significantly impaired memory consolidation after 4 days of testing using a radial maze task
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• born alive but do not survive beyond P10
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• increase in the number of astrocytes in the cortex at E18.5
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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 11/12/2024 MGI 6.24 |
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