Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene .[5]
Model organisms [ ] Model organisms have been used in the study of CCDC57 function. A conditional knockout mouse line, called Ccdc57tm1a(EUCOMM)Wtsi [10] [11] International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[12] [13] [14]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8] [15] mutant mice and two significant abnormalities were observed.[8] hydrocephaly and had abnormal hypodermis fat layer morphology.[8]
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000176155 - Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048445 - Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: coiled-coil domain containing 57" . Retrieved 2011-08-30 .^ "Salmonella infection data for Ccdc57" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Ccdc57" . Wellcome Trust Sanger Institute.^ a b c d 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 2012-03-20. Retrieved 2012-02-07 .^ "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 .
External links [ ] Further reading [ ]
Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip" . Am. J. Hum. Genet . 85 (5): 628–42. doi :10.1016/j.ajhg.2009.10.014 . PMC 2775832 PMID 19913121 . Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score" . Mol. Med . 16 (7–8): 247–53. doi :10.2119/molmed.2009.00159 . PMC 2896464 PMID 20379614 . Ozyildirim AM, Wistow GJ, Gao J, et al. (2005). "The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts". Invest. Ophthalmol. Vis. Sci . 46 (5): 1572–80. CiteSeerX 10.1.1.123.3574 doi :10.1167/iovs.04-1380 . PMID 15851553 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing" . Genome Res . 7 (4): 353–8. doi :10.1101/gr.7.4.353 . PMC 139146 PMID 9110174 . Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem . 236 (1): 107–13. doi :10.1006/abio.1996.0138 . PMID 8619474 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags" . Proc. Natl. Acad. Sci. U.S.A . 97 (7): 3491–6. doi :10.1073/pnas.97.7.3491 PMC 16267 PMID 10737800 . Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study" . Diabetes Care . 33 (10): 2250–3. doi :10.2337/dc10-0452 . PMC 2945168 PMID 20628086 .
