Biology:FAM134C
 Generic protein structure example |
Protein FAM134C is a protein that in humans is encoded by the FAM134C (family with sequence similarity 134, member C) gene.[1]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| General Observations | Abnormal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Abnormal[2] |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Abnormal[3] |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Abnormal[4] |
| All tests and analysis from[5][6] |
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
- ↑ "Entrez Gene: family with sequence similarity 134, member C". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=162427. Retrieved 2011-08-30.
- ↑ "Indirect calorimetry data for Fam134c". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAST/indirect-calorimetry/.
- ↑ "Eye morphology data for Fam134c". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAST/eye-morphology/.
- ↑ "Salmonella infection data for Fam134c". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MAST/salmonella-challenge/.
- ↑ 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.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Fam134c.
- ↑ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4433416.
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMID 21677750.
- ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ "A Mouse for All Reasons". Cell 128 (1): 9–13. 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ 12.0 12.1 "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. 2011. doi:10.1186/gb-2011-12-6-224. PMID 21722353.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21.". Genomics 28 (3): 530–42. 1995. doi:10.1006/geno.1995.1185. PMID 7490091.
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