RAB7L1
RAB7, member RAS oncogene family-like 1 is a protein that in humans is encoded by the RAB7L1 gene.[1] The gene is also known as RAB7L. RAB7L1 encodes a small GTP-binding protein and is a member of the Ras superfamily.[1][2]
Model organisms
| 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 | Normal |
| Heart weight | Normal |
| Citrobacter infection | Normal[3] |
| All tests and analysis from[4][5] |
Model organisms have been used in the study of RAB7L1 function. A conditional knockout mouse line, called Rab7l1tm1a(EUCOMM)Wtsi[6][7] 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 — at the Wellcome Trust Sanger Institute.[8][9][10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty one tests were carried out on mutant mice, but no significant abnormalities were observed.[4]
References
- ^ a b "RAB7, member RAS oncogene family-like 1". Retrieved 2011-12-06.
- ^ Shimizu, F.; Katagiri, T.; Suzuki, M.; Watanabe, T. K.; Okuno, S.; Kuga, Y.; Nagata, M.; Fujiwara, T.; Nakamura, Y.; Takahashi, E. (1997). "Cloning and chromosome assignment to 1q32 of a human cDNA (RAB7L1) encoding a small GTP-binding protein, a member of the RAS superfamily". Cytogenetics and cell genetics. 77 (3–4): 261–263. doi:10.1159/000134591. PMID 9284931.
- ^ "Citrobacter infection data for Rab7l1". Wellcome Trust Sanger Institute.
- ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium".
- ^ "Mouse Genome Informatics".
- ^ 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.
- ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (January 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.
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Further reading
- Tucci, A.; Nalls, M. A.; Houlden, H.; Revesz, T.; Singleton, A. B.; Wood, N. W.; Hardy, J.; Paisán-Ruiz, C. (2010). "Genetic variability at the PARK16 locus". European Journal of Human Genetics. 18 (12): 1356–1359. doi:10.1038/ejhg.2010.125. PMC 3002857. PMID 20683486.
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