LRRC16A
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LRRC16A
| Leucine rich repeat containing 16A | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | LRRC16A; CARMIL; CARMIL1; CARMIL1a; LRRC16; dJ501N12.1; dJ501N12.5 | ||||||||||||
| External IDs | OMIM: 609593 HomoloGene: 9757 GeneCards: LRRC16A Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 55604 | 68732 | |||||||||||
| Ensembl | ENSG00000079691 | ENSMUSG00000021338 | |||||||||||
| UniProt | Q5VZK9 | Q6EDY6 | |||||||||||
| RefSeq (mRNA) | NM_001173977.1 | NM_026825.3 | |||||||||||
| RefSeq (protein) | NP_001167448.1 | NP_081101.3 | |||||||||||
| Location (UCSC) | Chr 6: 25.28 – 25.62 Mb |
Chr 13: 24.1 – 24.37 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Leucine rich repeat containing 16A is a protein that in humans is encoded by the LRRC16A gene.[1] The gene is also known as LRRC16, CARMIL, CARMIL1 or CARMIL1a.[1]
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 |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[2] |
| Citrobacter infection | Normal[3] |
| All tests and analysis from[4][5] |
Model organisms have been used in the study of LRRC16A function. A conditional knockout mouse line, called Lrrc16atm1a(KOMP)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 two tests were carried out on mutant mice but no significant abnormalities were observed.[4]
References
- ^ a b "leucine rich repeat containing 16A". http://www.ncbi.nlm.nih.gov/gene/55604. Retrieved 2011-12-04.
- ^ "Salmonella infection data for Lrrc16a". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBKM/salmonella-challenge/.
- ^ "Citrobacter infection data for Lrrc16a". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBKM/citrobacter-challenge/.
- ^ 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". http://www.knockoutmouse.org/martsearch/search?query=Lrrc16a.
- ^ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362921.
- ^ 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 (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. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3218837.
Further reading
- Yang, C.; Pring, M.; Wear, M. A.; Huang, M.; Cooper, J. A.; Svitkina, T. M.; Zigmond, S. H. (2005). "Mammalian CARMIL Inhibits Actin Filament Capping by Capping Protein". Developmental Cell 9 (2): 209–221. doi:10.1016/j.devcel.2005.06.008. PMC 2628720. PMID 16054028. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2628720.
- Liang, Y.; Niederstrasser, H.; Edwards, M.; Jackson, C. E.; Cooper, J. A. (2009). "Distinct Roles for CARMIL Isoforms in Cell Migration". Molecular Biology of the Cell 20 (24): 5290–5305. doi:10.1091/mbc.E08-10-1071. PMC 2793302. PMID 19846667. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2793302.
- Gunjaca, G.; Boban, M.; Pehlić, M.; Zemunik, T.; Budimir, D.; Kolcić, I.; Lauc, G.; Rudan, I. et al (2010). "Predictive Value of 8 Genetic Loci for Serum Uric Acid Concentration". Croatian medical journal 51 (1): 23–31. PMC 2829178. PMID 20162742. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2829178.
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