Mouse Genome Informatics
hm
    Dnm1Ftfl/Dnm1Ftfl
C57BL/6J-Dnm1Ftfl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• only survive into the second or third week of life

behavior/neurological
• post-natal day 12 (P12) progressive ataxia
• post-natal day 12 (P12) progressive ataxia characterized by an abnormal and uncoordinated stance and gait
• postnatal day 12 (P12) progressive ataxia characterized by an abnormal and uncoordinated stance and gait
• spontaneous convulsive seizures that usually result in death before weaning age
• seizures at P14-P16, a seizure episode typically lasts 30 seconds to one minute and is immediately followed by a clear diminishment in health and movement.

nervous system
• spontaneous convulsive seizures that usually result in death before weaning age
• seizures at P14-P16, a seizure episode typically lasts 30 seconds to one minute and is immediately followed by a clear diminishment in health and movement.
• Purkinje cell dendritic trees are markedly smaller in all homozygous mice examined at P17

hearing/vestibular/ear
• the latencies of most ABR peaks are progressively prolonged
• the amplitude of some of the ABR peaks are reduced in the mutants
• display a modest ABR threshold increase, approximately 15 dB, across all sound frequencies tested

Mouse Models of Human Disease
OMIM IDRef(s)
Epilepsy, Idiopathic Generalized; EIG 600669 J:163311