Phenotypes Associated with This Genotype

Genotype
MGI:6509028

• Allelic Composition: Eps15l1^tm1.1Noff/Eps15l1^tm1.1Noff
• Genetic Background: B6(Cg)-Eps15l1^tm1.1Noff

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

mortality/aging

premature death ( J:272122 )

• mice that escape neonatal death succumb at 6-8 weeks of age

postnatal lethality, incomplete penetrance ( J:272122 )

• although born in normal Mendelian ratios, only 10% of mice (instead of expected 25%) survive to weaning, with newborns dying within the first 2 days of birth

behavior/neurological

abnormal behavior ( J:272122 )

• at 4 weeks of age, mice exhibit neurological deficits as revealed by SHIRPA testing

aphagia ( J:272122 )

• 90% of newborn pups exhibit lack of feeding

absent gastric milk in neonates ( J:272122 )

hyporesponsive to tactile stimuli ( J:272122 )

• newborn pups show a significant reduction of reactivity in the nociceptive tail flick test

• however, no difference is observed in the tail suspension test

respiratory system

abnormal breathing pattern ( J:272122 )

• most pups exhibit difficulties in respiratory activity on the second day after birth

nervous system

abnormal synaptic vesicle number ( J:272122 )

• ultrastructural analysis of steady-state synapses from hippocampal neurons revealed a ~50% reduction of synaptic vesicles relative to wild-type controls

abnormal synaptic vesicle clustering ( J:272122 )

• the number of docked/tethered synaptic vesicles per length of active zone is significantly decreased in hippocampal neurons

growth/size/body

decreased body size ( J:272122 )

• at 4 weeks of age

decreased body weight ( J:272122 )

• at 4 weeks of age

postnatal growth retardation ( J:272122 )

• mice that escape neonatal death show decreased growth rate

cellular

abnormal synaptic vesicle number ( J:272122 )

• ultrastructural analysis of steady-state synapses from hippocampal neurons revealed a ~50% reduction of synaptic vesicles relative to wild-type controls

abnormal endocytosis ( J:272122 )

• although the number of synaptic vesicles with a diameter >80 nm is normal under steady-state conditions, analysis of HRP uptake upon depolarization with 50 mM KCl revealed a significant increase in the number of large HRP-positive vesicles (>80 nm) in hippocampal neurons, suggesting that bulk endocytosis is more active in these cells