Phenotypes Associated with This Genotype

Genotype
MGI:4822359

• Allelic Composition: Dnm1^Ftfl/Dnm1^Ftfl
• Genetic Background: C57BL/6J-Dnm1^Ftfl

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

mortality/aging

postnatal lethality, complete penetrance ( J:163311 )

• only survive into the second or third week of life

behavior/neurological

ataxia ( J:163311 )

• post-natal day 12 (P12) progressive ataxia

impaired limb coordination ( J:163311 )

• post-natal day 12 (P12) progressive ataxia characterized by an abnormal and uncoordinated stance and gait

abnormal gait ( J:163311 )

• postnatal day 12 (P12) progressive ataxia characterized by an abnormal and uncoordinated stance and gait

convulsive seizures ( J:163311 )

• spontaneous convulsive seizures that usually result in death before weaning age

tonic-clonic seizures ( J:163311 )

• 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

convulsive seizures ( J:163311 )

• spontaneous convulsive seizures that usually result in death before weaning age

tonic-clonic seizures ( J:163311 )

• 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.

abnormal Purkinje cell dendrite morphology ( J:163311 )

• Purkinje cell dendritic trees are markedly smaller in all homozygous mice examined at P17

hearing/vestibular/ear

abnormal auditory brainstem response waveform shape ( J:163311 )

• the latencies of most ABR peaks are progressively prolonged

• the amplitude of some of the ABR peaks are reduced in the mutants

increased or absent threshold for auditory brainstem response ( J:163311 )

• display a modest ABR threshold increase, approximately 15 dB, across all sound frequencies tested

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic generalized epilepsy		DOID:1827	OMIM:600669	J:163311