- 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
C;129P2-Pi4k2aGt(AK0094)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:11736 |
| Citation information | RRID:IMSR_EM:11736 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C;129P2-Pi4k2aGt(AK0094)Wtsi/H |
| Alternative name | Pi4k2aGt(AK0094)Wtsi Balb/c |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Pi4k2aGt(AK0094)Wtsi |
| Gene/Transgene symbol | Pi4k2a |
Information from provider
| Provider | Paul Simons |
| Provider affiliation | Centre for Amyloidosis and Acute Phase Proteins, , UCL |
| Genetic information | Gene trap (functional null) of Pi4k2a. |
| Phenotypic information | Homozygous: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 |
|
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI phenotypes (gene matching)
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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