Phenotypes Associated with This Genotype

Genotype
MGI:6360310

• Allelic Composition: Elovl4^tm1Wked/Elovl4^tm1Wked; Tg(IVL-Elovl4)#Wked/0; Tg(KRT14-Elovl4)#Mpag/0
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:277065 )

• mice die by P21

growth/size/body

decreased body weight ( J:277065 )

• mice have half the body weight of wild-type mice at P20

postnatal growth retardation ( J:277065 )

• mice are developmentally delayed, with un-opened eyes and half the body weight of wild-type mice at P20

behavior/neurological

seizures ( J:277065 )

• mice develop epileptic seizures that increase in frequency until their death at P21

homeostasis/metabolism

abnormal energy homeostasis ( J:277065 )

• brains show a 3-fold increase in ATP with no significant change in other intermediary metabolites indicating increased energy demand in the brain

• however, no differences in blood-brain barrier permeability are seen

nervous system

seizures ( J:277065 )

• mice develop epileptic seizures that increase in frequency until their death at P21

abnormal nervous system electrophysiology ( J:277065 )

• mice show aberrant hippocampal neuronal firing patterns under spontaneous and evoked conditions

abnormal CNS synaptic transmission ( J:277065 )

• synaptic I/O ratios show enhanced synaptic transmission in hippocampal slices

abnormal excitatory postsynaptic potential ( J:277065 )

• when pre-synaptic release is synchronized, mutant neurons generate a larger positive fEPSP amplitude response than wild-type and the magnitude of this difference is much larger downstream in CA3 and CA1 than in the dentate gyrus

vision/eye

delayed eyelid opening ( J:277065 )

• mice have un-opened eyes at P20

cellular

increased cellular glucose import ( J:277065 )

• nearly 3-fold increase in glucose uptake in the brain, indicating increased metabolic demand in the brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lipid metabolism disorder		DOID:3146		J:277065