Biology:INTS12
 Generic protein structure example |
Integrator complex subunit 12 (Int12) also known as PHD finger protein 22 (PHF22) is a protein that in humans is encoded by the INTS12 gene.[1]
INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1) and U2 (RNU2)[1][2]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| 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 |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal[3] |
| Citrobacter infection | Normal[4] |
| All tests and analysis from[5][6] |
Model organisms have been used in the study of INTS12 function. A conditional knockout mouse line, called Ints12tm1a(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 seven tests were carried out on mutant mice and two significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.[5]
References
- ↑ 1.0 1.1 "Entrez Gene: integrator complex subunit 12". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=57117. Retrieved 2011-08-30.
- ↑ "Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II.". Cell 123 (2): 265–76. 2005. doi:10.1016/j.cell.2005.08.019. PMID 16239144.
- ↑ "Salmonella infection data for Ints12". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MALX/salmonella-challenge/.
- ↑ "Citrobacter infection data for Ints12". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MALX/citrobacter-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=Ints12.
- ↑ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432308.
- ↑ 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.
- ↑ "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
- "A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.". Hum. Mol. Genet. 19 (12): 2497–506. 2010. doi:10.1093/hmg/ddq112. PMID 20332099.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
 |
