All Phenotypes Sh3gl3<tm1.2Itl> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sh3gl3^tm1.2Itl
targeted mutation 1.2, inGenious Targeting Laboratory
MGI:5468729

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sh3gl3^tm1.2Itl/Sh3gl3^tm1.2Itl	involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL	MGI:5468834
cx2	Sh3gl2^tm1Pdc/Sh3gl2^tm1Pdc Sh3gl3^tm1.2Itl/Sh3gl3^tm1.2Itl	involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL	MGI:5468830
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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl3^tm1.2Itl mutation (0 available); any Sh3gl3 mutation (17 available)

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

normal phenotype

no abnormal phenotype detected ( J:178947 )

• mice are normal and fertile

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl2^tm1Pdc mutation (1 available); any Sh3gl2 mutation (37 available)
Sh3gl3^tm1.2Itl mutation (0 available); any Sh3gl3 mutation (17 available)

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

mortality/aging

mortality/aging ( J:178947 )

N	• mice survive into adulthood

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3gl1^tm1Pdc mutation (1 available); any Sh3gl1 mutation (32 available)
Sh3gl2^tm1Pdc mutation (1 available); any Sh3gl2 mutation (37 available)
Sh3gl3^tm1.2Itl mutation (0 available); any Sh3gl3 mutation (17 available)

♀	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

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

Find Mice

♀	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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