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Mouse Strain information
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| APB ID | 7623 | |||||||||||||||||||||
| Added | 24/03/2014 | |||||||||||||||||||||
| Last Edited | 18/08/2015 | |||||||||||||||||||||
| Strain nomenclature: | B6.129-Gabrg2tm1Spet/Apb | |||||||||||||||||||||
| Nickname: | RQ/B6 ; GABRG2 R43Q | |||||||||||||||||||||
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Genetics
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| Strain Types |
Mutant strain
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| Genetic Details |
Targeted knockout
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| Mode of Inheritance | Dominant | |||||||||||||||||||||
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| Mutant Construction Technique | CRE recombinase-loxP technology | |||||||||||||||||||||
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Phenotype
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| Phenotype Homozygous State | Partial perinatal lethality: • mice are rarely born Complete postnatal lethality: • mice that are born die before P19 Tremors: • mice that are born exhibit a severe tremor Abnormal gait: • mice that are born have altered gaits Abnormal brain wave pattern: • mice lack normal brain rhythms | |||||||||||||||||||||
| Phenotype Heterozygous State | Mice heterozygous for the mutation demonstrated behavioral arrest associated with 6-to 7-Hz spike-and-wave discharges, which are blocked by ethosuximide, a first-line treatment for absence epilepsy in man. Seizures in the mouse showed an abrupt onset at around age 20 days corresponding to the childhood nature of this disease. Reduced cell surface expression of gamma2(R43Q) was seen in heterozygous mice in the absence of any change in alpha1 subunit surface expression | |||||||||||||||||||||
| Original Genetic Background | (129X1/SvJ x 129S1/Sv)F1-Kitl+ | |||||||||||||||||||||
| Genetic Background Currently Maintained | C57BL/6J | |||||||||||||||||||||
| Coat Colour | Black | |||||||||||||||||||||
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Strain identification
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| How is this strain characterised? |
Genotyping
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Fertility and Strain maintenance
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Relevant bibliographic / database references
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General information
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| Associated IP rights? | No | |||||||||||||||||||||
| Does it Model a Human Condition? | Yes | |||||||||||||||||||||
| Description of human condition: | childhood absence epilepsy | |||||||||||||||||||||
| Applicable Research Areas |
Neurobiology
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| Keywords |
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| Additional Information | Genotype of mice submitted for sperm cryopreservation confirmed by researcher using tissue harvested from the mice at the time of cryopreservation. | |||||||||||||||||||||
| Is the strain available in any form to other researchers | Yes | |||||||||||||||||||||
| APB stock stored as: |
Cryopreserved sperm (from 6 mice)
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| Are live mice available? | Unknown | |||||||||||||||||||||
| MTA needs to be signed? | No | |||||||||||||||||||||
