Family Identifier |
NMF134 |
Synonym(s) |
C57BL/6J-Nmf134/J; JR#4703 |
Synopsis |
Low threshold to electroconvulsive minimal clonic seizures. |
Gene Symbol |
Nmf134 (View MGI Record) |
Gene |
Neuroscience mutagenesis facility134 |
Allele Symbol |
Nmf134 (View MGI Record) |
Allele |
Neuroscience mutagenesis facility134 |
Abnormal Assay(s) |
Assay: Electroconvulsive threshold (ECT)
Domain(s): Epilepsy
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Phenotype Description |
The mutants exhibit a low threshold to electroconvulsive clonic seizures, i.e. when stimulated transcorneally with the CC3 for minimal seizures in C57BL/6J mice (6.5 mA females, or 8.0 mA males), the majority responds not with minimal, but with intense, grade 3 or higher, seizures*. Therefore, NMF134 mutants might be useful for studying neurobiological mechanisms related to epilepsy.
This seizure phenotype was mapped as a binary dominant trait in 17 affected and 24 unaffected (C57BL/6J-Nmf134 x BALB/cByJ)F1 X BALB/cByJ N2 backcross mice. The apparent molecular interval was D2Mit148 - 2.5 cM - (Nmf134, D2Frk1=Kcnq2), with a peak LOD score of 4.2 at D2Frk1. Nmf134 is presently examined for mutations in Kcnq2.
* (seizure grades: 0= no observable symptoms, 3= rearing, forelimb clonus and jaw clonus, 5= tonic hind limb extension seizure)
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Pathology Report |
Standard pathology work-up on two mutants that died during ECT testing (42 days of age) revealed no abnormalities; standard pathology performed on two additional mutants (68 days of age) that survived ECT testing also showed no abnormalities.
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HERITABILITY AND MAPPING INFORMATION
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Background Strain |
C57BL/6J |
Heritability Mode |
Dominant |
Heritability Status |
Proven; 4 matings of heterozygous or wild-type x heterozygous mice resulted in 21 affected mice in a total progeny of 53. This ratio may represent an underestimation of penetrance since some of these mice were tested in the presence of valproate (100mg/kg) to prevent adverse effects of seizures. |
Chromosome |
2 |
Molecular Interval |
D2Mit148 - 2.5 cM - (Nmf134, D2Frk1=Kcnq2) |
Map
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
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Comments |
Please note: The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org.
(23) NMF134 have been requested by and distributed to 4 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |