Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse   Donating Investigator Pietro De Camilli,   Yale University School of Medicine, HHMI

Description
Homozygous Synj1 (synaptojanin 1) targeted mutation mice exhibit neurological defects and die within approximately 24 hours of birth due to an inability to feed. Phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2) levels are increased, and clathrin-coated vesicles accumulate in the area that surrounds the synaptic vesicle cluster in nerve endings. Western blot analysis demonstrates that protein is not expressed in knockout mice. This strain may be useful in studies of synaptic vesicle recycling.

Development
The 3' end of the first coding exon and part of the following intron were replaced with a neomycin resistance cassette in 129/SvJ-derived embryonic stem cells. This strain was maintained on a mixed genetic background composed of 129 and C57BL/6 by the donating laboratory.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Synj1^tm1Pdc/Synj1^tm1Pdc

        involves: 129S1/Sv * C57BL/6

• mortality/aging
• complete postnatal lethality
  • animals surviving past P1 die within 15 days of birth   (MGI Ref ID J:58087)
• partial neonatal lethality
  • incomplete penetrance; 85% of homozygous animals die within 24 hours of birth   (MGI Ref ID J:58087)
• behavior/neurological phenotype
• ataxia   (MGI Ref ID J:58087)
• convulsive seizures
  • episodic convulsions were noted in homozygous mice   (MGI Ref ID J:58087)
• weakness
  • severe weakness was noted in homozygotes surviving past P1   (MGI Ref ID J:58087)
• growth/size phenotype
• postnatal growth retardation
  • animals are significantly smaller than controls; a 3-fold weight difference was noted at P10   (MGI Ref ID J:58087)
• nervous system phenotype
• convulsive seizures
  • episodic convulsions were noted in homozygous mice   (MGI Ref ID J:58087)
• increased synaptic depression
  • amplitude and duration of synaptic depression was enhanced in homozygous mice after stimulatory conditions   (MGI Ref ID J:58087)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Developmental Biology Research
Embryonic Lethality (Homozygous)

Neurobiology Research
Neurotransmitter Receptor and Synaptic Vesicle Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Synj1tm1Pdc
Allele Name		targeted mutation 1, Pietro De Camilli
Allele Type		Targeted (knock-out)
Mutation Made By		Pietro De Camilli,   Yale University School of Medicine, HHMI
Strain of Origin		129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
Gene Symbol and Name		Synj1, synaptojanin 1
Chromosome		16
Gene Common Name(s)		A930006D20Rik; AA675315; INPP5G; RIKEN cDNA A930006D20 gene; expressed sequence AA675315; mKIAA0910;
Molecular Note		A neomycin resistance cassette replaced a genomic fragment containing part of exon 1 and part of intron 1. Western blot analysis on brain tissue of homozygous mice demonstrated that no detectable protein was expressed from this allele. [MGI Ref ID J:58087]

Genotyping

Genotyping Information

Genotyping Protocols

Synj1^tm1Pd, Fast MCA

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Cremona O; Di Paolo G; Wenk MR; Luthi A; Kim WT; Takei K; Daniell L; Nemoto Y; Shears SB; Flavell RA; McCormick DA; De Camilli P. 1999. Essential role of phosphoinositide metabolism in synaptic vesicle recycling. Cell 99(2):179-88. [PubMed: 10535736]  [MGI Ref ID J:58087]

Additional References

Synj1^tm1Pdc related

Berman DE; Dall'Armi C; Voronov SV; McIntire LB; Zhang H; Moore AZ; Staniszewski A; Arancio O; Kim TW; Di Paolo G. 2008. Oligomeric amyloid-beta peptide disrupts phosphatidylinositol-4,5-bisphosphate metabolism. Nat Neurosci 11(5):547-54. [PubMed: 18391946]  [MGI Ref ID J:136135]

Cossec JC; Lavaur J; Berman DE; Rivals I; Hoischen A; Stora S; Ripoll C; Mircher C; Grattau Y; Olivomarin JC; de Chaumont F; Lecourtois M; Antonarakis SE; Veltman JA; Delabar JM; Duyckaerts C; Di Paolo G; Potier MC. 2012. Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum Mol Genet 21(14):3156-72. [PubMed: 22511594]  [MGI Ref ID J:185280]

Kim WT; Chang S; Daniell L; Cremona O; Di Paolo G; De Camilli P. 2002. Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice. Proc Natl Acad Sci U S A 99(26):17143-8. [PubMed: 12481038]  [MGI Ref ID J:81012]

Mani M; Lee SY; Lucast L; Cremona O; Di Paolo G; De Camilli P; Ryan TA. 2007. The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals. Neuron 56(6):1004-18. [PubMed: 18093523]  [MGI Ref ID J:136888]

McIntire LB; Berman DE; Myaeng J; Staniszewski A; Arancio O; Di Paolo G; Kim TW. 2012. Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease. J Neurosci 32(44):15271-6. [PubMed: 23115165]  [MGI Ref ID J:192294]

Soda K; Balkin DM; Ferguson SM; Paradise S; Milosevic I; Giovedi S; Volpicelli-Daley L; Tian X; Wu Y; Ma H; Son SH; Zheng R; Moeckel G; Cremona O; Holzman LB; De Camilli P; Ishibe S. 2012. Role of dynamin, synaptojanin, and endophilin in podocyte foot processes. J Clin Invest 122(12):4401-11. [PubMed: 23187129]  [MGI Ref ID J:194200]

Voronov SV; Frere SG; Giovedi S; Pollina EA; Borel C; Zhang H; Schmidt C; Akeson EC; Wenk MR; Cimasoni L; Arancio O; Davisson MT; Antonarakis SE; Gardiner K; De Camilli P; Di Paolo G. 2008. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci U S A 105(27):9415-20. [PubMed: 18591654]  [MGI Ref ID J:137826]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & Husbandry	When maintained as a live colony, heterozygotes may be bred. Homozygotes die shortly after birth.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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