Phenotypes Associated with This Genotype

Genotype
MGI:5468831

• Allelic Composition: Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc; Sh3gl2^tm1Pdc/Sh3gl2^tm1Pdc; Sh3gl3^tm1.2Itl/Sh3gl3^tm1.2Itl
• Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL

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

mortality/aging

neonatal lethality, complete penetrance ( J:178947 )

nervous system

abnormal synapse morphology ( J:178947 )

• synapses accumulate clathrin-coated vesicles but not clathrin-coated pits

abnormal synaptic vesicle number ( J:178947 )

• reduced number

abnormal synaptic vesicle recycling ( J:178947 )

• endocytic recovery of synaptic vesicle is 2.5-fold slower than in controls

• however, this defect is rescued by re-expression of Sh3gl1

decreased excitatory postsynaptic current amplitude ( J:178947 )

• reduction in peak amplitude in response to a single stimulus

abnormal miniature excitatory postsynaptic currents ( J:178947 )

• more than 2.5 times reduction in the frequency and decreased amplitude

increased synaptic depression ( J:178947 )

• after a 30 AP at 10, but not 1, Hz stimulus

• recovering is delayed

respiratory system

respiratory distress ( J:178947 )

behavior/neurological

absent gastric milk in neonates ( J:178947 )

growth/size/body

decreased birth body size ( J:178947 )

cellular

abnormal synaptic vesicle number ( J:178947 )

• reduced number