All Phenotypes Sh3gl3<tm1.2Itl> MGI Mouse

About Help FAQ

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 (37 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 )

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24