Phenotypes Associated with This Genotype

Genotype
MGI:4836484

• Allelic Composition: Nedd4^tm2Bros/Nedd4^tm2Bros
• Genetic Background: involves: C57BL/6N

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:164745 )

• most mice die between E16.5 and E18.5

perinatal lethality, complete penetrance ( J:164745 )

• although some mice are present E18.5, no mice are present at birth

nervous system

nervous system phenotype ( J:164745 )

N • mice exhibit normal neuronal viability and presynaptic release probability

N • mice exhibit normal kainic acid-induced currents

N • neurons exhibit normal synapse density per dendrite length, presynaptic maturation of synapses, and spatial matching of pre-and postsynapses

abnormal neuron morphology ( J:164745 )

• cultured neurons are smaller than similarly treated wild-type neurons

• however, neuron survival in culture is normal

abnormal dendrite morphology ( J:164745 )

• dendrites are more immature (shorter with less branching) than on wild-type neurons

• however, initial neuritogenesis is normal

abnormal synapse morphology ( J:164745 )

• the number of Synapsin+ presynaptic puncta is reduced compared to in wild-type neurons

• the number of Synapsin+ and Bassoon+ synpatic puncta is decreased compared to in wild-type neurons

abnormal synaptic vesicle number ( J:164745 )

• the size of the readily releasable vesicle pool is decreased compared to in wild-type neurons

decreased excitatory postsynaptic current amplitude ( J:164745 )

• the amplitude of excitatory postsynaptic currents is reduced compared to in wild-type mice

abnormal miniature excitatory postsynaptic currents ( J:164745 )

• the frequency of miniature excitatory postsynaptic currents (mEPSCs) is reduced compared to in wild-type mice

• however, the amplitude of mEPSCs is normal

cardiovascular system

hemorrhage ( J:164745 )

• 50% of mice exhibit subcutaneous bleeding

growth/size/body

fetal growth retardation ( J:164745 )

• beginning at E11.5