Phenotypes Associated with This Genotype

Genotype
MGI:2652038

• Allelic Composition: nmf63/nmf63
• Genetic Background: C57BL/6J-nmf63/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

akinesia ( J:82238 )

• when suddenly disturbed in their cage, mice freeze in abnormal positions (for example, 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

• episodes last for 20-30 seconds, then the animals recover quickly and move about normally

• this behavior is observed by 3 weeks of age

nervous system

abnormal cerebellar Purkinje cell layer ( J:82238 )

• some gaps in the purkinje cell layer of the parafloccular lobes of the cerebellum were noted, but the rest of the cerebellum looked normal

abnormal nervous system electrophysiology ( J:82238 )

• in the EEG of two of three mutants, short, low amplitude spike-wave complexes 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

abnormal brain wave pattern ( J:82238 )

• in the EEG of two of three mutants, short, low amplitude spike-wave complexes were observed while the animal was awake but immobile