Family Identifier |
NMF350 |
Synonym(s) |
C57BL/6J-Nmf350/J; JR#6153 |
Synopsis |
Low threshold to electroconvulsive minimal clonic seizures. |
Gene Symbol |
Nmf350 (View MGI Record) |
Gene |
Neuroscience mutagenesis facility350 |
Allele Symbol |
Nmf350 (View MGI Record) |
Allele |
Neuroscience mutagenesis facility350 |
Abnormal Assay(s) |
Assay: Electroconvulsive threshold (ECT)
Domain(s): Epilepsy
|
Phenotype Description |
Mutants are sensitive to electroconvulsive seizures, i.e. when stimulated transcorneally at the CC3 level for minimal clonic seizures of C57BL/6J mice (6.5 mA for females, or 8.0 mA for males), NMF350 mice respond with grade 3 or higher, seizures.
Two of four apparent mutants (experienced at least one electroconvulsive minimal clonic seizure), also had tonic hindlimb extension seizures in response to a dose (40 mg/kg) of the GABA antagonist PTZ, less than 12 minutes after subcutaneous injection. The remaining two mutants did not show any seizure behavior, nor did any of seven C57BL/6J control mice. The severity of the response from two of the mutants suggest that the low seizure threshold of NMF350 mice is not restricted to electroconvulsive stimuli.
|
Pathology Report |
Standard pathology work-up on two mutants (47 days of age) revealed the absence of the corpus callosum in the brain of one of the mice. However, because NMF350 mice do not usually exhibit stereotyped electroconvulsive behaviors seen in strains that are known to have absent corpus callosum (e.g. 129, BTBR), this result may either have been an artifact or the pathology is not fully penetrant. No other abnormalities were observed in either animal. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Dominant |
Heritability Status |
Proven; Consistent recovery of a large fraction of affected offspring between matings of NMF350/? x NMF350/? matings. Since survival of homozygotes has not been proven, the genotype of these mice is unknown. Mapped to Chr 1 from a cross between (C57BL/6J-NMF350/? x BALB/cByJ)F1 x BALB/cByJ, N=44 (July, 2006). An excessive number of affected N2 offspring may be due to homozygosity at the closely-linked QTL Szs1, but in the mapping cross the susceptible allele comes from the C57BL/6J parent, consistent with a new ENU-induced mutation. |
Chromosome |
1 |
Molecular Interval |
between D1Mit113 and D1Mit511 Mb, maximum LRS significant at p< 0.00001 |
STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Contact e-Mail Address |
wayne.frankel@jax.org |