User:Rockpocket/MGP/SPNS2
Model organisms
[edit]| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Homozygous Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Abnormal[1] |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Abnormal[2] |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Abnormal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Abnormal[3] |
| Clinical chemistry | Abnormal[4] |
| Plasma immunoglobulins | Normal |
| Haematology | Abnormal[5] |
| Peripheral blood lymphocytes | Abnormal[6] |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Eye Histopathology | Abnormal |
| MicroCT & Quantitative Faxitron | Abnormal |
| Salmonella infection | Normal[7] |
| Citrobacter infection | Normal[8] |
| All tests and analysis from[9][10] |
Model organisms have been used in the study of SPNS2 function. A conditional knockout mouse line, called Spns2tm1a(KOMP)Wtsi[11][12] 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.[13][14][15]
Animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty eight tests were carried out on homozygous mutant mice of both sex and nine significant abnormalities were observed, including an absence of pinna reflex, abnormal eye pigmentation and morphology including cataracts, decreased leukocyte cell number, abnormal brainstem auditory evoked potential, increased bone mineral content and a range of atypical peripheral blood lymphocyte parameters. [9] Males additionally displayed decreased circulating glucose and increased circulating bilirubin levels.[9]
References
[edit]- ^ "Neurological assessment data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Dysmorphology data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Eye morphology data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Clinical chemistry data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Haematology data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Peripheral blood lymphocytes data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Salmonella infection data for Spns2". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Spns2". Wellcome Trust Sanger Institute.
- ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley.
{{cite web}}: CS1 maint: location (link) - ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "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: 262-263. doi:10.1038/474262a.
{{cite web}}: CS1 maint: location (link) CS1 maint: year (link) - ^ Collins FS, Rossant J, Wurst W (January 2007). A mouse for all reasons. Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247.
{{cite book}}: CS1 maint: location (link) CS1 maint: location missing publisher (link) CS1 maint: multiple names: authors list (link) CS1 maint: year (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)