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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Sh3gl1tm1Pdc
targeted mutation 1, Pietro De Camilli
MGI:5468725
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Sh3gl1tm1Pdc/Sh3gl1tm1Pdc involves: 129 MGI:5468821
cx2
 		Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Sh3gl2tm1Pdc/Sh3gl2tm1Pdc 		involves: 129 MGI:5468823
cx3
 		Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Sh3gl2tm1Pdc/Sh3gl2tm1Pdc
Sh3gl3tm1.2Itl/Sh3gl3tm1.2Itl 		involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL MGI:5468831
cx4
 		Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Sh3gl2tm1Pdc/Sh3gl2+
Sh3gl3tm1.2Itl/Sh3gl3tm1.2Itl 		involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL MGI:5468832


Genotype
MGI:5468821
hm1
Allelic
Composition		 Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl1tm1Pdc mutation (1 available); any Sh3gl1 mutation (37 available)
♀ 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		 Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Sh3gl2tm1Pdc/Sh3gl2tm1Pdc
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl1tm1Pdc mutation (1 available); any Sh3gl1 mutation (37 available)
Sh3gl2tm1Pdc mutation (1 available); any Sh3gl2 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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

behavior/neurological
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		 Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Sh3gl2tm1Pdc/Sh3gl2tm1Pdc
Sh3gl3tm1.2Itl/Sh3gl3tm1.2Itl
Genetic
Background		 involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl1tm1Pdc mutation (1 available); any Sh3gl1 mutation (37 available)
Sh3gl2tm1Pdc mutation (1 available); any Sh3gl2 mutation (37 available)
Sh3gl3tm1.2Itl mutation (0 available); any Sh3gl3 mutation (17 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

nervous system
abnormal synapse morphology ( J:178947 )
• synapses accumulate clathrin-coated vesicles but not clathrin-coated pits
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

behavior/neurological

growth/size/body
decreased birth body size ( J:178947 )




Genotype
MGI:5468832
cx4
Allelic
Composition		 Sh3gl1tm1Pdc/Sh3gl1tm1Pdc
Sh3gl2tm1Pdc/Sh3gl2+
Sh3gl3tm1.2Itl/Sh3gl3tm1.2Itl
Genetic
Background		 involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl1tm1Pdc mutation (1 available); any Sh3gl1 mutation (37 available)
Sh3gl2tm1Pdc mutation (1 available); any Sh3gl2 mutation (37 available)
Sh3gl3tm1.2Itl mutation (0 available); any Sh3gl3 mutation (17 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
seizures ( J:178947 )
• severe epileptic seizures

nervous system
seizures ( J:178947 )
• severe epileptic seizures




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory