FAM134C

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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n/a

RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein FAM134C is a protein that in humans is encoded by the FAM134C (family with sequence similarity 134, member C) gene.[1]

Model organisms

Model organisms have been used in the study of FAM134C function. A conditional knockout mouse line, called Fam134ctm2a(EUCOMM)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty four tests were carried out on mutant mice and four significant abnormalities were observed.[5] Homozygous animals had an abnormal xyphoid process and eye morphology.[12] Females had increased indirect calorimetry parameters while males had an increased susceptibility to bacterial infection.[5]

References

  1. "Entrez Gene: family with sequence similarity 134, member C". Retrieved 2011-08-30.
  2. "Indirect calorimetry data for Fam134c". Wellcome Trust Sanger Institute.
  3. "Eye morphology data for Fam134c". Wellcome Trust Sanger Institute.
  4. "Salmonella infection data for Fam134c". Wellcome Trust Sanger Institute.
  5. 5.0 5.1 5.2 5.3 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.
  6. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. "International Knockout Mouse Consortium".
  8. "Mouse Genome Informatics".
  9. 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.
  10. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. 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.
  12. 12.0 12.1 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

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Rommens JM, Durocher F, McArthur J, et al. (1995). "Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21". Genomics. 28 (3): 530–42. doi:10.1006/geno.1995.1185. PMID 7490091.