C;129P2-Pi4k2aGt(AK0094)Wtsi/H

Status

Available to order

EMMA IDEM:11736
Citation informationRRID:IMSR_EM:11736 

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International strain nameC;129P2-Pi4k2aGt(AK0094)Wtsi/H
Alternative namePi4k2aGt(AK0094)Wtsi Balb/c
Strain typeGene-trap
Allele/Transgene symbolPi4k2aGt(AK0094)Wtsi
Gene/Transgene symbolPi4k2a

Information from provider

ProviderPaul Simons
Provider affiliationCentre for Amyloidosis and Acute Phase Proteins, , UCL
Genetic informationGene trap (functional null) of Pi4k2a.
Phenotypic informationHomozygous:
Age-related neurodegeneration: progressive degeneration of ascending and descending tracts in the spinal cord, and death of cerebellar Purkinje cells. Peripheral nerves are normal. Young adults appear normal; tremor, hindlimb clasping and spastic gait appear on ageing (onset 4-12 months). Perturbed packing of von Willebrand factor in Weibel-Palade bodies of endothelial cells.

Heterozygous:
Heterozygotes appear normal.
References
  • Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.;Simons J Paul, Al-Shawi Raya, Minogue Shane, Waugh Mark G, Wiedemann Claudia, Evangelou Stylianos, Loesch Andrzej, Sihra Talvinder S, King Rosalind, Warner Thomas T, Hsuan J Justin, ;2009;Proceedings of the National Academy of Sciences of the United States of America;106;11535-9; 19581584
  • Type II PI4-kinases control Weibel-Palade body biogenesis and von Willebrand factor structure in human endothelial cells.;Lopes da Silva Mafalda, O'Connor Marie N, Kriston-Vizi Janos, White Ian J, Al-Shawi Raya, Simons J Paul, Mössinger Julia, Haucke Volker, Cutler Daniel F, ;2016;Journal of cell science;129;2096-105; 27068535
Homozygous fertileno
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI phenotypes (gene matching)
  • tremors / MGI
  • weakness / MGI
  • decreased Purkinje cell number / MGI
  • weight loss / MGI
  • abnormal gait / MGI
  • limb grasping / MGI
  • reduced female fertility / MGI
  • male infertility / MGI
  • premature death / MGI
  • no abnormal phenotype detected / MGI
  • gliosis / MGI
  • urinary incontinence / MGI
  • astrocytosis / MGI
  • increased circulating aspartate transaminase level / MGI
  • behavior/neurological phenotype / MGI
  • abnormal axon morphology / MGI

Literature references

  • Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.;Simons J Paul, Al-Shawi Raya, Minogue Shane, Waugh Mark G, Wiedemann Claudia, Evangelou Stylianos, Loesch Andrzej, Sihra Talvinder S, King Rosalind, Warner Thomas T, Hsuan J Justin, ;2009;Proceedings of the National Academy of Sciences of the United States of America;106;11535-9; 19581584
  • Type II PI4-kinases control Weibel-Palade body biogenesis and von Willebrand factor structure in human endothelial cells.;Lopes da Silva Mafalda, O'Connor Marie N, Kriston-Vizi Janos, White Ian J, Al-Shawi Raya, Simons J Paul, Mössinger Julia, Haucke Volker, Cutler Daniel F, ;2016;Journal of cell science;129;2096-105; 27068535

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