Phenotypes Associated with This Genotype

Genotype
MGI:3711533

• Allelic Composition: Elovl4^tm1Wked/Elovl4^tm1Wked
• Genetic Background: involves: 129S/SvEv * 129S1/Sv

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

mortality/aging

neonatal lethality, complete penetrance ( J:121481 )

♀ • all mice die 6 to 12 hours after birth

behavior/neurological

lethargy ( J:121481 )

♀

nervous system

abnormal synaptic vesicle number ( J:277065 )

• the recycling synaptic vesicle pool is smaller in mutant synapses than in wild-type synapses

• however, hippocampal neuronal cultures from E18.5 embryos form glutamatergic and GABAergic synapses with no overt differences from wild-type neuronal cultures

abnormal synaptic vesicle exocytosis ( J:277065 )

• hippocampal neurons show faster pre-synaptic release of FM1-43 dye due to selective acceleration of synaptic vesicle fusion in a subset of synapses

homeostasis/metabolism

impaired skin barrier function ( J:121481 )

♀

integument

impaired skin barrier function ( J:121481 )

♀

abnormal epidermal layer morphology ( J:121481 )

♀ • acylceramides are completely lacking from the epidermis

abnormal epidermis stratum corneum morphology ( J:121481 )

♀ • compacted and lacking the laminations present in wild-type

reddish skin ( J:121481 )

♀

cellular

abnormal synaptic vesicle number ( J:277065 )

• the recycling synaptic vesicle pool is smaller in mutant synapses than in wild-type synapses

• however, hippocampal neuronal cultures from E18.5 embryos form glutamatergic and GABAergic synapses with no overt differences from wild-type neuronal cultures

abnormal synaptic vesicle exocytosis ( J:277065 )

• hippocampal neurons show faster pre-synaptic release of FM1-43 dye due to selective acceleration of synaptic vesicle fusion in a subset of synapses