CCDC57

CCDC57
Identifiers
AliasesCCDC57, coiled-coil domain containing 57
External IDsMGI: 1918526 HomoloGene: 52351 GeneCards: CCDC57
Orthologs
SpeciesHumanMouse
Entrez

284001

71276

Ensembl

ENSG00000176155

ENSMUSG00000048445

UniProt

Q2TAC2

Q6PHN1

RefSeq (mRNA)

NM_152675
NM_198082
NM_001316321

NM_027745

RefSeq (protein)

NP_001303250
NP_932348

NP_082021

Location (UCSC)Chr 17: 82.1 – 82.21 MbChr 11: 120.83 – 120.93 Mb
PubMed search[1][2]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.[3]

Model organisms

Model organisms have been used in the study of CCDC57 function. A conditional knockout mouse line, called Ccdc57tm1a(EUCOMM)Wtsi[8][9] 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.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.[6] The animals displayed hydrocephaly and had abnormal hypodermis fat layer morphology.[6]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ "Entrez Gene: coiled-coil domain containing 57". Retrieved 2011-08-30.
  4. ↑ "Salmonella infection data for Ccdc57". Wellcome Trust Sanger Institute.
  5. ↑ "Citrobacter infection data for Ccdc57". Wellcome Trust Sanger Institute.
  6. 1 2 3 4 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.
  7. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ↑ "International Knockout Mouse Consortium".
  9. ↑ "Mouse Genome Informatics".
  10. ↑ 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. PMC 3572410 Freely accessible. PMID 21677750. doi:10.1038/nature10163.
  11. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. PMID 21677718. doi:10.1038/474262a.
  12. ↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. PMID 17218247. doi:10.1016/j.cell.2006.12.018.
  13. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol. 12 (6): 224. PMC 3218837 Freely accessible. PMID 21722353. doi:10.1186/gb-2011-12-6-224.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.