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Allele Symbol Allele Name Allele ID |
Tg(Camk2a-cre)2Gsc transgene insertion 2, Gunther Schutz MGI:2181426 |
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| Summary |
27 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice fed standard chow or a high fat diet exhibit normal body weight and composition
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| N |
• mice treated with FGF21 exhibit the same disruptions in metabolism observed in FGF-treated control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• contain a large number of antral follicles
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• in the ovarian hilus, theca cells appear hypertrophic and luteinized
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• the endometrial stroma appears condensed and shows granulocyte infiltration
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• the endometrium lacks all glandular structures
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• the endometrium is severely atrophic
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• at 5 - 6 weeks of age the uterus is grossly enlarged and filled with fluid
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• ovarectomized, estrogen-treated mice fail to display a luteinizing hormone surge
• however, basal luteinizing hormone levels are similar to wild-type
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| N |
• distribution and number of gonadotropin-releasing hormone neurons are similar to wild-type
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• the endometrium lacks all glandular structures
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• contain a large number of antral follicles
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• in the ovarian hilus, theca cells appear hypertrophic and luteinized
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit a normal acoustic startle profile, prepulse inhibition, motor function, hippocampal synaptic plasticity, exploratory behavior in an open field, behavior in an elevated O maze, conditioned taste aversion, and corticosterone levels at circadian trough and peak
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• mice exhibit impaired learning of the water-maze task
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• mice exhibit deficits in measures of working memory on the radial maze
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• mice display increased horizontal and vertical exploratory activity toward a novel object that is not associated with a general increase of locomotor activity, however show a normal approach response toward the novel object
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• aberrant layout of the mossy fibers is seen; however, the hippocampal cornu ammonis and dentate gyrus are normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the specific neuronal cell architecture in the striatum and the hippocampus is not altered
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• almost completely lack a preference for sucrose
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• do not remember their negative experience
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• do not remember their negative experience
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• starting around 6-8 weeks of age in an open field make fewer total arm entries in an elevated plus maze
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• almost completely lack a preference for sucrose
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• make more entries into and spend more time in open arms in an elevated plus maze
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• slightly improved performance in some trials during standard accelerated rotarod analysis
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• in a new environment
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• in a new environment
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Kleefstra syndrome 1 | DOID:0060352 |
OMIM:610253 |
J:155739 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the specific neuronal cell architecture in the striatum and the hippocampus was not altered
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• almost completely lack a preference for sucrose
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• starting around 6-8 weeks of age, in an open field make fewer total arm entries in an elevated plus maze
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• almost completely lack a preference for sucrose
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• make more entries into and spend more time in open arms in an elevated plus maze
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• in a new environment
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• in a new environment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• travel significantly less than control mice in a new environment
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• reduction in vertical episodes in a new environment
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• travel significantly less than control mice in a new environment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no behavioral abnormalities are observed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• no difference in long term potentiation/depression ratio
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• at 40 and 60 minutes after kainate injection
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• the power of gamma oscillations in hippocampal subfield CA1 is reduced
• the latency to pathological activity following disinhibition with bicuculline methiodide is shorter compared to controls
• with increased network excitability, gamma oscillation was consistently disrupted by EPSPs in slices
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• increased release
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• at 40 and 60 minutes after kainate injection
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• impaired ability to discriminate familiar and novel objects
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• impaired in a reward based 8-arm radial maze test (make more errors when only 50% of the arms are baited)
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• impaired in a reward based 8-arm radial maze test (increase in the number of revisiting events across all trials)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following injections of kainic acid (an excitotoxin) mutant mice carrying the transgene display decreased survival compared to mutant mice not carrying the transgene
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• following injections of kainic acid (an excitotoxin) mutant mice carrying the transgene display more severe seizures compared to mutant mice not carrying the transgene
• seizure severity did not differ between mutant mice carrying the transgene and null mice homozygous for Cnr1tm1.1Ltz
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• following injections of kainic acid (an excitotoxin) mutant mice carrying the transgene display more severe seizures compared to mutant mice not carrying the transgene
• seizure severity did not differ between mutant mice carrying the transgene and null mice homozygous for Cnr1tm1.1Ltz
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• kainic acid treated mutant mice carrying the transgene have significantly more apoptosis in the CA1 and CA3 regions of the hippocampus compared to mutant mice not carrying the transgene
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• kainic acid treated mutant mice carrying the transgene have significantly more apoptosis in the CA1 and CA3 regions of the hippocampus compared to mutant mice not carrying the transgene
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• following injections of kainic acid (an excitotoxin) mutant mice carrying the transgene display decreased survival compared to mutant mice not carrying the transgene
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• kainic acid treated mutant mice carrying the transgene have significantly more apoptosis in the CA1 and CA3 regions of the hippocampus compared to mutant mice not carrying the transgene
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• kainic acid induces stronger seizures than in wild-type mice
• however, diazepam protects mice and wild-type mice similarly against kainic acid-induced seizures
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• kainic acid induces stronger seizures than in wild-type mice
• however, diazepam protects mice and wild-type mice similarly against kainic acid-induced seizures
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• mutants exhibit a hyperphagic phenotype compared to controls on the first day of a novel palatable food test, and maintain the higher food intake over the course of the experiment
• mutants show high levels of physical interaction with a novel object from the first experimental day even when the palatability component is removed
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• mutants do not show any safety behavior towards the novel food and immediately consume the maximal amount, indicating impaired regulation of behavioral inhibition
• mutants exhibit shorter latencies to contact with the novel food item and to displace the novel object
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice were euthanized at 13 days of age due to no weight gain and seizures
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• 12 day old pups suffer seizures when touched by littermates
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• E15.5 cortical neurons cultured in vitro die within 7 days of withdrawal of the anti-oxidant alpha-tocopherol
• this cell death occurs by a poorly defined death pathway involving the protein Aifm1
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• damaged and pyknotic cells in the pyramidal layer of the CA3 region are found in mice 13 days of age
• parvalbumin-positive cells were largely lost from CA3 region due to apoptosis
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• astrogliosis, apoptosis, and loss of parvalbumin-expressing cells occur in the somatosensory cortex of 13 day old mice
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• astrogliosis occurs in the somatosensory cortex and the CA3 region of the hippocampus of 13-day old mice
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• mice cease weight gain starting at 8 days of age until being euthanized at 13 days of age
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• mice consistently bury themselves vertically in cage bedding
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• 12 day old pups suffer seizures when touched by littermates
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• E15.5 cortical neurons cultured in vitro die within 7 days of withdrawal of the anti-oxidant alpha-tocopherol
• this cell death occurs by a poorly defined death pathway involving the protein Aifm1
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal anxiety-related behavior
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• mice exhibit deficits in short-term memory compared with wild-type mice
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• in an open field test, mice exhibit increased peripheral activity compared with wild-type mice
• in a Y-maze, mice exhibit reduced spontaneous alternation compared with wild-type mice
• in a T-maze, mice spend less time in the novel arm than wild-type mice
• mice exhibit impaired place preference for a sweet milk reward compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show reduced spine density in layer 5 cortical projection neurons
• however, no major changes in overall cortical projection neurons morphology and projections are seen
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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 |
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• mice show reduced field of interest with smaller number of zone crossings in the open field
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• mice exhibit increased anxiety-like behavior, avoiding the central area more in the open field and in the open arms of the elevated plus maze
• however, mice learn normally in the Morris water maze, mice show normal hind paw coordination, and do not show visual, auditory, or olfactory deficits
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• mice bury more marbles and dip more repeatedly in the hole board
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• mice exhibit lower sociability in the two-chamber test
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• mice show lower interest in social novelty in the two-chamber test
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• the inter-action potential intervals in response to a threshold current step (+150 pA, just above the rheobase) are longer in cortical projection neurons, suggesting increased accommodation and, possibly, decreased excitability
• however, the inter-action potential interval in response to a strong depolarizing current (+300 pA) is similar to controls and while cortical projection neurons show a lower number of action potentials in response to depolarizing current pulses, this is not significantly different from controls
• no major changes in membrane properties of cortical projection neurons and in the proportion of pyramidal tract versus intratelencephalic neurons are seen
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• the NMDA/AMPA ratio is increased in spiny projection neurons
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• the paired-pulse ratio of AMPA receptor-mediated excitatory postsnynaptic currents (EPSCs) in layer 5 (L5) cortical projection neurons is higher, suggesting a decreased probability of action potential-dependent glutamate release from L2/3 cortical neurons
• however, the paired-pulse ratio of GABAergic inhibitory postsynaptic currents is similar to controls and the distribution of miniature EPSC interevent interval and amplitude, as well as the average frequency and amplitude, and the NMDA/AMPA ratio are similar to controls
• the paired-pulse ratio of corticostriatal glutamatergic EPSCs is higher in spiny projection neurons, suggesting a decreased probability of action potential-dependent glutamate release from L5 cortical projection neurons
• however, striatal spiny projection neurons present similar resting membrane potential and current-voltage relationship as controls and miniature EPSC parameters are not changed in spiny projection neurons
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• long-term depression (LTD) is absent and is even reversed as a transient potentiation
• however, long-term potentiation is normal
• the blockade of NMDA receptors by AP-5 partially recovers LTD and abolishes the transient potentiation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:294534 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal electrophysiological properties
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• dendritic protrusions exhibit increased width and density and reduced length compared to in Tsc2tm1Tno heterozygotes
• however, mice exhibit normal spine and shaft synapse density
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• after 4 weeks, approximately 12% smaller width of the entire brain compared to controls
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• at 34 weeks brains weigh 15% less than wild-type
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• striatal atrophy and secondary enlargement of the lateral ventricles are observed at 4 weeks in 1 mouse and in another 5 at 6 weeks
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• dramatic reduction in striatal size in the second month
• striatal volume is decreased by 60% with a 65% loss in cell numbers and 17% reduction in cell density
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• striatal atrophy and secondary enlargement of the lateral ventricles are observed at 4 weeks in 1 mouse and in another 5 at 6 weeks
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• decrease in dentate gyrus cell number
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• hippocampus volume is decreased
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• cortex volume is significantly decreased without a change in cell density or total cell number
• cortical thickness is decreased at 4,6, 8 and 30 weeks
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• astrocytes had a reactive astrocyte morphology with large cell bodies and complex ramified cellular processes
• the number of reactive astrocytes (GFAP+) increases over time with a 20-fold higher number of GFAP+ cells at 9 weeks, then reduces at later time points but always remains high than in controls
• reactive astrocytes are seen in the hippocampus and cortex
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• at 5 weeks, handling-induced seizures occur
• spontaneous seizures were recorded in 2 of 5 mice
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• activated microglia (CD11b+) are present in the cortex, hippocampus, thalamus and caudate putamen at 3 weeks but numbers decrease over time
• at 5 weeks less microglial reactivity is seen in the thalamus and no activated microglia are seen in the cortex or hippocampus
• at 21 weeks mice are free of microglia
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• interictal electroencephalogram (EEG) is abnormal
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• at 4 weeks, hindlimb clasping is subtle
• at 12 weeks, frequent paroxysmal bursts of dystonic hindlimb retraction are observed
• at 14 weeks, mice sustain hindlimb clasping with trunk flexion
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• at 12 weeks, frequent paroxysmal bursts of dystonic hindlimb retraction are observed
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• at 14 weeks trunk flexion associated with hindlimb clasping
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• at 6 to 9 weeks and 16 to 21 weeks, there is a decrease in chewing and shifting while total rearing is increased
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• at 6 to 9 weeks but not at 16 to 21 weeks, mice show increases in distance covered, time spent moving and speed of movement
• increase in sniffing
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• at 5 weeks, handling-induced seizures occur
• spontaneous seizures were recorded in 2 of 5 mice
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• at 12 weeks, frequent paroxysmal bursts of dystonic hindlimb retraction are observed
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• males and females weigh 17% and 25%, respectively, less than wild-type
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• activated microglia (CD11b+) are present in the cortex, hippocampus, thalamus and caudate putamen at 3 weeks but numbers decrease over time
• at 5 weeks less microglial reactivity is seen in the thalamus and no activated microglia are seen in the cortex or hippocampus
• at 21 weeks mice are free of microglia
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• activated microglia (CD11b+) are present in the cortex, hippocampus, thalamus and caudate putamen at 3 weeks but numbers decrease over time
• at 5 weeks less microglial reactivity is seen in the thalamus and no activated microglia are seen in the cortex or hippocampus
• at 21 weeks mice are free of microglia
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Huntington's disease | DOID:12858 |
OMIM:143100 |
J:120070 | |
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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 |
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• die at 2 to 3 months of age, similar to germ line null mice
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• early onset
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viable with normal locomotor activity levels
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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N |
• mice exhibit normal motor function on a rotarod, hanging wire test and beam walk
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• in the Morris water, mice exhibit impaired performance compared with control mice
• however, treatment with cyclocreatine improves performance
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• in the radial arm mazes, mice exhibit impaired performance compared with control mice
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• in the radial arm mazes, mice exhibit impaired performance compared with control mice
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• impaired novel object recognition
• however, treatment with cyclocreatine improves performance
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• during the dark phase
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• in the brain
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cerebral creatine deficiency syndrome 1 | DOID:0050800 |
OMIM:300352 |
J:190081 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal lack of parasite control (high parasite burden and cyst numbers) in brain after infection with Toxoplasma gondii strain 76K
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal axonal growth and myelination
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased locomotion in response to MK-801, an NMDA antagonist
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• in response to MK-801, an NMDA antagonist
• however, no difference in baseline activity levels is detected
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• the induction of LTP in the Schaffer collateral to CA1 synapses is abolished
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• compared with wild-type littermate controls, show impaired PPI at a prepulse intensity of 74 dB
• however, the baseline startle response is not different from controls
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• show reduced (RS)-3,5-dihydroxyphenylglycine induced long term depression
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice display normal contextual, associative and spatial learning unlike germline null Nr2e1 mice
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• mice are hyperaggressive and attack other mice despite their small size
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• mice display less anxiety-related behaviors in a dark light box test in which they spend more time in the lit compartment, enter into the light compartment more often and enter the lit compartment sooner than wild-type mice
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| N |
• eye morphology and physiology are normal unlike germline null Nr2e1 mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die at ~21 days of age
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• N-methyl-D-glucamine (NMDG)-evoked hyperpolarization is greatly reduced relative to that in age-matched sibling controls
• in the presence of tetrodotoxin (a voltage-dependent sodium channel blocker) and potassium (K) blockers, the sodium leak current flowing during the interspike interval (INALCN) is reduced in organotypic slices containing SCN after replacement of extracellular sodium with NMDG
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• suprachiasmatic nucleus (SCN) neurons are hyperpolarized and silent, consistent with a role of NALCN in controlling the membrane potential and firing frequency of neurons
• a small depolarization current injected into SCN neurons is able to evoke strong firing, indicating that cells are healthy but require a greater depolarizing input to evoke action potentials
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• corticosterone does not have the expected effect on miniature excitatory postsynaptic currents in CA1 cells
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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 04/16/2024 MGI 6.23 |
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