Phenotypes Associated with This Genotype

Genotype
MGI:6306133

• Allelic Composition: Tbc1d24^em2Tbf/Tbc1d24^em2Tbf
• Genetic Background: C57BL/6J-Tbc1d24^em2Tbf

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

mortality/aging

postnatal lethality, complete penetrance ( J:273646 )

• by 3 weeks of age, all mice die likely due to seizures or general prostration

behavior/neurological

tonic-clonic seizures ( J:273646 )

• mice exhibit spontaneous tonic-clonic seizures that are detected after P15

• seizures manifest as wild running and then convulsions, followed by a postictal state

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:273646 )

N • mice exhibit normal auditory and vestibular function and normal inner ear sensory epithelia

nervous system

nervous system phenotype ( J:273646 )

N • mice exhibit normal gross brain anatomy

tonic-clonic seizures ( J:273646 )

• mice exhibit spontaneous tonic-clonic seizures that are detected after P15

• seizures manifest as wild running and then convulsions, followed by a postictal state

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 16		DOID:0080449	OMIM:615338	J:273646