STRAIN INFORMATION
Family Identifier
 NMF63
Synonym(s)
 C57BL/6J-nmf63/J; JR#4468
Synopsis
 Intermittent movement disorder.
Gene Symbol
 nmf63 (View MGI Record)
Gene
 neuroscience mutagenesis facility63
Allele Symbol
 nmf63 (View MGI Record)
Allele
 neuroscience mutagenesis facility63
Abnormal Assay(s)
 Assay: Overt movement/posture

   Domain(s): Visible Mutants ; Movement/Neuromuscular Function

Assay: Electroencephalogram (EEG)

   Domain(s): Epilepsy
Phenotype Description
 The mutants exhibit a form of paroxysmal akinesia when suddenly disturbed in their cage. They freeze in abnormal positions for 20-30 seconds, i.e. may be crouched with head down, or lie on their side with one limb positioned stiffly at their side. When picked up by their tail, the hind limbs extend stiffly forward, the front limbs paddle swiftly. The animals recover quickly and then move about normally. In two of three mutant EEGs, short, low amplitude ( 4 Hz spike-wave complexes; 0.5 - 1.5s, 10 - 15 µV), were observed while the animal was awake but immobile. The frequency was about 10 times per hour, although low-amplitude single or double spikes were seen at greater frequency. The spike-wave complexes did not coincide with, although sometimes followed, episodes of intermittent movement abnormality. In one animal tested, the single spikes and spike-wave complexes were eliminated after administration of 150 mg/kg ethosuximide, i.p., suggesting that these events may represent absence seizures.
Pathology Report
 Standard pathology work-up on three mutants (57, 75 and 150 days of age) revealed thickening of the petrous temporal bone in one animal, however, serial sections of the second animal's ear showed no abnormalities. There appeared to be some gaps in the purkinje cell layer of the parafloccular lobes of the cerebellum, but the rest of the cerebellum looked normal.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 5 heterozygote matings produced 8 affected mice in a total of 27.
Chromosome
 16
Molecular Interval
 NMF63 - 2.5 cM - (D16Mit154, D16Mit131) - 4.5 cM - D16Mit34
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
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. (4) NMF63 have been requested by and distributed to 1 investigator.
Contact e-Mail Address
 nmf-mice@jax.org