Phosphoribosyl pyrophosphate synthetase-associated protein 2 is an enzyme that in humans is encoded by the PRPSAP2 gene.[1][2]
Model organisms
editModel organisms have been used in the study of PRPSAP2 function. A conditional knockout mouse line, called Prpsap2tm1a(EUCOMM)Wtsi[3][4] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[5][6][7] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][9]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Abnormal[10] |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Abnormal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[11] |
| Citrobacter infection | Normal[12] |
| All tests and analysis from[8] |
Twenty five tests were carried out and two phenotypes were reported. Homozygous mutant males displayed more rearing in a open field test, and mutants of both sex had decreased IgG1 levels.[8]
References
edit- ^ "Entrez Gene: PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2".
- ^ Katashima R, Iwahana H, Fujimura M, Yamaoka T, Itakura M (November 1998). "Assignment of the human phosphoribosylpyrophosphate synthetase-associated protein 41 gene (PRPSAP2) to 17p11.2-p12". Genomics. 54 (1): 180–1. doi:10.1006/geno.1998.5432. PMID 9806849.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ "International Knockout Mouse Consortium".
- ^ "Mouse Genome Informatics".
- ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351). Nature 474: 262-263. doi:10.1038/474262a: 262–263. doi:10.1038/474262a. PMID 21677718.
{{cite journal}}: CS1 maint: location (link) - ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1). Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247: 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
{{cite journal}}: CS1 maint: location (link) CS1 maint: multiple names: authors list (link) - ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88. Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. doi:10.1111/j.1755-3768.2010.4142.x.
{{cite journal}}: CS1 maint: location (link) - ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMID 21722353.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ "Anxiety data for Prpsap2". Wellcome Trust Sanger Institute.
- ^ "Salmonella infection data for Prpsap2". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Prpsap2". Wellcome Trust Sanger Institute.