Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38 gene.[1] The gene is also known as ICB-1 and THEMIS2 in humans, and the orthologue in mice is BC013712.[1] C1orf38 has been associated with cancer susceptibility.[2]
Model organisms [link]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| 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 |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Abnormal |
| Heart weight | Normal |
| Tail epidermis wholemount | 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 C1orf38 function. A conditional knockout mouse line, called BC013712tm1a(KOMP)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 six tests were carried out on mutant mice and one significant abnormality was observed: chromosomal instability was detect by a micronucleus test.[5]
References [link]
- ^ a b "Chromosome 1 open reading frame 38". https://www.ncbi.nlm.nih.gov/gene/9473. Retrieved 2011-12-07.
- ^ Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. (2009). "Single Nucleotide Polymorphisms in Human Geneicb-1and Breast Cancer Susceptibility". Cancer Investigation 27 (6): 669–672. DOI:10.1080/07357900802620877. PMID 19308812.
- ^ "Salmonella infection data for BC013712". Wellcome Trust Sanger Institute. https://www.sanger.ac.uk/mouseportal/phenotyping/MBED/salmonella-challenge/.
- ^ "Citrobacter infection data for BC013712". Wellcome Trust Sanger Institute. https://www.sanger.ac.uk/mouseportal/phenotyping/MBED/citrobacter-challenge/.
- ^ a b c 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". https://www.knockoutmouse.org/martsearch/search?query=BC013712.
- ^ "Mouse Genome Informatics". https://www.informatics.jax.org/searchtool/Search.do?query=MGI:4364708.
- ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, 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. 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.
- ^ 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. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3218837.
Further reading [link]
- Treeck, O.; Springwald, A.; Konwisorz, A.; Lattrich, C.; Goerse, R.; Ortmann, O.; Treeck, O. (2011). "Silencing of the icb-1 gene inhibits the induction of differentiation-associated genes by vitamin D3 and all-trans retinoic acid in gynecological cancer cells". International Journal of Molecular Medicine 28 (1): 121–127. DOI:10.3892/ijmm.2011.663. PMID 21455565.
- Springwald, A.; Lattrich, C.; Skrzypczak, M.; Goerse, R.; Ortmann, O.; Treeck, O. (2010). "Icb-1Gene Expression is Elevated in Human Endometrial Adenocarcinoma and is Closely Associated with HER2 Expression". Cancer Investigation 28 (9): 904–909. DOI:10.3109/07357907.2010.483511. PMID 20569072.
- Konwisorz, A.; Springwald, A.; Haselberger, M.; Goerse, R.; Ortmann, O.; Treeck, O. (2009). "Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells". Endocrine Related Cancer 17 (1): 147–157. DOI:10.1677/ERC-09-0095. PMID 19942713.
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