C9orf156
Chromosome 9 open reading frame 156 is a protein that in humans is encoded by the C9orf156 gene.[1] The gene is also known as NAP1 and HSPC219; the orthologue in mice is 5830415F09Rik.[1]
Model organisms
Characteristic | Phenotype |
---|---|
Homozygote viability | Normal |
Fertility | Normal |
Body weight | Normal |
Anxiety | Normal |
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 |
Haematology | Normal |
Peripheral blood lymphocytes | Normal |
Micronucleus test | Normal |
Heart weight | Normal |
Skin Histopathology | Normal |
Brain histopathology | Normal |
Salmonella infection | Normal[2] |
Citrobacter infection | Normal[3] |
All tests and analysis from[4][5] |
Model organisms have been used in the study of C9orf156 function. A conditional knockout mouse line, called 5830415F09Riktm1a(EUCOMM)Wtsi[6][7] 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.[8][9][10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty four tests were carried out on mutant mice, but no significant abnormalities were observed.[4]
References
- "Chromosome 9 open reading frame 156". Retrieved 2011-12-11.
- "Salmonella infection data for 5830415F09Rik". Wellcome Trust Sanger Institute.
- "Citrobacter infection data for 5830415F09Rik". Wellcome Trust Sanger Institute.
- Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- 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 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- 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. S2CID 18872015.
- 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. PMC 3218837. PMID 21722353.
Further reading
- Letra, A.; Menezes, R.; Govil, M.; Fonseca, R. F.; McHenry, T.; Granjeiro, J. M.; Castilla, E. E.; Orioli, I. D. M.; Marazita, M. L.; Vieira, A. R. (2010). "Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate". American Journal of Medical Genetics Part A. 152A (7): 1701–1710. doi:10.1002/ajmg.a.33482. PMC 2898904. PMID 20583170.
- Moreno, L. M.; Mansilla, M. A.; Bullard, S. A.; Cooper, M. E.; Busch, T. D.; Machida, J.; Johnson, M. K.; Brauer, D.; Krahn, K.; Daack-Hirsch, S.; l'Heureux, J.; Valencia-Ramirez, C.; Rivera, D.; López, A. M.; Moreno, M. A.; Hing, A.; Lammer, E. J.; Jones, M.; Christensen, K.; Lie, R. T.; Jugessur, A.; Wilcox, A. J.; Chines, P.; Pugh, E.; Doheny, K.; Arcos-Burgos, M.; Marazita, M. L.; Murray, J. C.; Lidral, A. C. (2009). "FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate". Human Molecular Genetics. 18 (24): 4879–4896. doi:10.1093/hmg/ddp444. PMC 2778374. PMID 19779022.