Phenotypes Associated with This Genotype

Genotype
MGI:5431979

• Allelic Composition: Vps18^tm1.1Wtao/Vps18^tm1.1Wtao; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * SJL

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

Small size of Vps18^tm1.1Wtao/Vps18^tm1.1Wtao Tg(Nes-cre)1Kln/0 mice at P10

mortality/aging

postnatal lethality, complete penetrance ( J:186307 )

• despite being born at Mendelian ratios, all mice die before P12

nervous system

decreased brain size ( J:186307 )

• especially in the cerebral cortex and cerebellum region

abnormal hippocampus morphology ( J:186307 )

• at P10, the hippocampus losses its morphological structure

abnormal hippocampus CA3 region morphology ( J:186307 )

• at P1, the CA3 region is split into two layers with more loosely associated neurons compared with wild-type mice

abnormal cerebellum morphology ( J:186307 )

• reduced foliation at P1 and P10

small cerebellum ( J:186307 )

• at P1 and P10

neurodegeneration ( J:186307 )

• severe at P10

abnormal neuron physiology ( J:186307 )

• neurons exhibit reduced apoptosis and endocytosis compared with control cells

increased neuron apoptosis ( J:186307 )

abnormal neuronal migration ( J:186307 )

• impaired

growth/size/body

decreased body size ( J:186307 )

• at P10

postnatal growth retardation ( J:186307 )

cellular

abnormal autophagy ( J:186307 )

• dramatically reduced in neurons

increased neuron apoptosis ( J:186307 )

abnormal neuronal migration ( J:186307 )

• impaired

homeostasis/metabolism

abnormal autophagy ( J:186307 )

• dramatically reduced in neurons