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Allele Symbol Allele Name Allele ID |
Tg(Slc32a1-cre)2.1Hzo transgene insertion 2.1, Huda Y Zoghbi MGI:4867735 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• seizure threshold measured by ECT test in this conditional null shows a decrease in both males and females
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• seizure threshold measured by ECT test in this conditional null shows a decrease in both males and females
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• around 50% of mutant mice die by 26 weeks
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• mice exhibit a period of rapid weight loss preceding death; initial weight gain is normal
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N |
• at 12 weeks of age, mice show similar responses to controls in thermal nociception assays, indicating that the self-injury observed is not due to impaired nociception
• mice display no anxiety-like phenotypes, indicating that hypoactivity or altered social behavior does not result from increased anxiety
• animals show no increased interest in a novel object than controls at 11-12 weeks
• mice recognize and habituate to a novel vanilla odorant; mutants did spend more time sniffing the novel scent than controls (possible manifestation of repetitive behavior) on the first day, but show no differences on the second day
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• in a Morris water maze paradigm, animals show a similar rate of learning to control during the 4 training days, but have difficulty locating the platform during the probe trial
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• time spent grooming is 300% greater than in control mice; excessive grooming leads to fur loss and epidermal lesions in group- and single-housed mice
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• mice have impaired maximum acoustic startle response than controls to 120 dB at 8 weeks
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• after 5 weeks of age, mice show repetitive behavior such as hindlimb clasping
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• at 5 weeks, mice show increased numbers of footslips on a wire grid and impaired dowel walk at 9 weeks
• mice have a shorter latency to fall on an accelerating rotarod at 19 weeks
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• at 9 weeks, mice show decreased time wire hang time prior to falling and reduce forelimb grip strength compared to controls
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• there is a trend to reduced activity observed at 12 weeks, while 19-week old mice are hypoactive
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• male mice begin to show repetitive behaviors after 5 weeks of age such as forelimb stereotypies similar to the mid-line hand-wringing that characterizes Rett syndrome in humans
• animals display a greater tendency to place their nose in the same hole 2 or more sequential times in a holeboard assay for head-dipping stereotypy
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• mice are poor nest builders, possibly due to social behavior alterations or to forelimb apraxia at 13 weeks
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• mice spend more time showing directed interest (sniffing, pawing, rearing) near the novel partner mouse than displayed by controls in a 3-chamber assay of social interaction at 12-13 weeks
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N |
• miniature excitatory postsynaptic current quantal size and frequency are similar to controls
• paired pulse ratio is not significantly altered in neurons
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• non-seizure hyperexcitability discharges are frequently observed in cultured neurons, but no electrographic seizures are seen
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• impaired LTP induced by theta-burst stimulation of Schaffer collaterals is detected
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• amplitude and charge of mIPSCs from layer 2/3 pyramidal neurons of the somatosensory cortex are reduced; no change in frequency is observed
• similar results are observed in autaptic GABAergic striatal neurons
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• in layer 2/3 pyramidal neurons of the somatosensory cortex
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• mice show an increased prepulse inhibition at 78 and 82 dB prepulses at 8 weeks
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• coinciding with weight loss, mice display a 42% reduction in tidal volume (and 45% reduction in minute volume)
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• mice display frequent apneas of greater than 0.4 second durations, coincident with weight loss
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• severe respiratory dysfunction is coincident with weight loss
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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 05/07/2024 MGI 6.23 |
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