CCDC104
Appearance
Coiled-coil domain containing 104 is a protein that in humans is encoded by the CCDC104 gene.[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 |
Heart weight | Normal |
Salmonella infection | Normal[2] |
Citrobacter infection | Abnormal[3] |
All tests and analysis from[4][5] |
Model organisms have been used in the study of CCDC104 function. A conditional knockout mouse line, called Ccdc104tm1a(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.[8][9][10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty one tests were carried out on homozygous mutant mice and one significant abnormality was observed: increased susceptibility to Citrobacter infection.[4]
References
- ^ "Coiled-coil domain containing 104". Retrieved 2011-12-06.
- ^ "Salmonella infection data for Ccdc104". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Ccdc104". Wellcome Trust Sanger Institute.
- ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium". Archived from the original on 2013-04-19.
- ^ "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 (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (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.
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Further reading