Phenotypes associated with this allele

• Allele Symbol: Sh3gl1^tm1Pdc
• Allele Name: targeted mutation 1, Pietro De Camilli
• Allele ID: MGI:5468725
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc	involves: 129	MGI:5468821
cx2	Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc Sh3gl2^tm1Pdc/Sh3gl2^tm1Pdc	involves: 129	MGI:5468823
cx3	Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc Sh3gl2^tm1Pdc/Sh3gl2^tm1Pdc Sh3gl3^tm1.2Itl/Sh3gl3^tm1.2Itl	involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL	MGI:5468831
cx4	Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc Sh3gl2^tm1Pdc/Sh3gl2^+ Sh3gl3^tm1.2Itl/Sh3gl3^tm1.2Itl	involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL	MGI:5468832

Genotype
MGI:5468821

hm1

• Allelic Composition: Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc
• Genetic Background: involves: 129

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

normal phenotype

no abnormal phenotype detected ( J:178947 )

• mice exhibit normal life span and no obvious phenotypic defects

Genotype
MGI:5468823

cx2

• Allelic Composition: Sh3gl1^tm1Pdc/Sh3gl1^tm1Pdc; Sh3gl2^tm1Pdc/Sh3gl2^tm1Pdc
• Genetic Background: involves: 129

mortality/aging

neonatal lethality, incomplete penetrance ( J:178947 )

• some mice die within 24 hours of birth

nervous system

seizures ( J:178947 )

• spontaneous epileptic seizures

abnormal hippocampal mossy fiber morphology ( J:178947 )

• mossy fiber terminals exhibit reduced numbers of synaptic vesicles and increased clathrin-coated vesicles compared with wild-type mice

abnormal axon morphology ( J:178947 )

• climbing fibers are thicker and shorter than in wild-type mice

neurodegeneration ( J:178947 )

behavior/neurological

impaired coordination ( J:178947 )

seizures ( J:178947 )

• spontaneous epileptic seizures

growth/size/body

decreased body weight ( J:178947 )

postnatal growth retardation ( J:178947 )

Genotype
MGI:5468831

cx3

• 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

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 )

Genotype
MGI:5468832

cx4

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

behavior/neurological

seizures ( J:178947 )

• severe epileptic seizures

nervous system

seizures ( J:178947 )

• severe epileptic seizures