Analysis Tools|
Allele Symbol Allele Name Allele ID |
Hnrnph2em2Jpat endonuclease-mediated mutation 2, J Paul Taylor MGI:7539576 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• P21 mice exhibit increased susceptibility to audiogenic seizures
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• P21 mice exhibit increased susceptibility to audiogenic seizures
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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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• males exhibit reduced survival up to 8 weeks of age
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• mice spend reduced time in the center zone of the elevated plus maze while time spent in the open or closed arms is comparable to controls, suggesting impaired decision making and risk assessment
• mice do not spend less time in the open arms and more time in the closed arms over time as seen in controls; this failure to avoid the open arm platform over time may be due to impaired spatial learning or impaired decision making and risk assessment
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• during the spatial learning phase of the Morris water maze, the latency to find the platform, as well as the cumulative distance from the platform, are reduced on days 2-4 of training indicating reduced spatial learning
• however, mice show no difference in the cued phase of the Morris water maze indicating they are able to complete the spatial version of the task
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• in the probe trial of the Morris water maze to assess memory, mice do not show a clear preference for the target quadrant, and mean distance from the target is higher
• however, in the Y maze spontaneous alternation test, the number of arm entries is reduced, and mice spend less time in the center zone, however percentage of spontaneous alternations is not different, indicating intact spatial working memory
• mice also show no deficit in novel object recognition in the novel object recognition test indicating unaffected visual recognition memory
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• in the familiarization phase and in the testing phase of the novel object recognition test, mice take longer to reach 20 seconds of total exploration of both the novel and familiar objects, suggesting decreased exploration
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• mice spend less time in the center zone in all 4 time bins, indicating impaired habituation to a novel environment
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• in the elevated plus maze, more mutants fall from the maze which may be due to increased anxiety and/or impaired motor function
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• mice exhibit increased anxiety, spending less time in the center zone of the open-field, despite similar locomotor activity
• during the spatial learning phase of the Morris water maze, thigmotaxis is increased on days 2 and 3 of training in contrast to during cued trials
• in the Y maze spontaneous alternation test mice spend less time in the center zone
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• motor function is impaired
• in the elevated plus maze, more mutants fall from the maze which may be due to increased anxiety and/or impaired motor function
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• mice show an impairment of balance in the beam walking test
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• mice show an impairment of balance and coordination in the beam walking test
• rotarod performance is impaired
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• latency to fall from a wire cage top is decreased, however measured grip strength is not different
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• in the social preference test and social novelty test, mice show a reduction in total distance traveled, indicating reduced locomotor activity
• during the spatial learning phase of the Morris water maze, mice show reduced swim speed on day 1 but not days 2-4 and in the probe trial of the Morris water maze to assess memory, mice do not show thigmotaxis but have slower mean swim speed
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• mice bury fewer marbles than controls in the marble burying test
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• in the social novelty test, the social novelty index is reduced, however mice show a normal total investigation time (novel plus known social investigation time) indicating that mice have intact social preference but exhibit social recognition memory deficits
• however, total investigation time and social preference index scores in the 3-chamber social test are not different
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• P21 mice exhibit increased susceptibility to audiogenic seizures, with increased incidence and severity of audiogenic seizures
• however, no impairment is seen in optomotor response, hot plate, or scent habituation tests
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• males exhibit craniofacial dysmorphology, with a difference in global skull shape based on EDMA
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• reduction in skull length at 6 weeks of age
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• mice often have domed heads, typically associated with hydrocephalus
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• reduction in nose length at 6 weeks of age
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• reduction in nose length at 6 weeks of age
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• P21 mice exhibit increased susceptibility to audiogenic seizures, with increased incidence and severity of audiogenic seizures
• however, no impairment is seen in optomotor response, hot plate, or scent habituation tests
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• 6-week-old and 24-week-old mice have moderate hydrocephalus, with 33% incidence at 6 weeks and 83% incidence at 24 weeks
• however, no evidence of aqueduct blockage or abnormal morphology of cilia on ependymal cells lining the dilated ventricles, or motile ciliary dysfunction in the respiratory system
• no evidence of inflammation in the brain, no changes in central nervous system myelination and no cell loss or altered lamination in the visual, somatosensory, or somatomotor cortex are seen
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• reduction in skull length at 6 weeks of age
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• mice often have domed heads, typically associated with hydrocephalus
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• increase in interorbital distance at 6 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| syndromic X-linked intellectual developmental disorder bain type | DOID:0070538 |
OMIM:300986 |
J:338313 | |
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 11/19/2024 MGI 6.24 |
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