WDR47

WD repeat domain 47
Identifiers
Symbols	WDR47 ; FLJ90135; KIAA0893
External IDs	OMIM: 615734 HomoloGene: 8984 GeneCards: WDR47 Gene
Gene ontology Molecular function • protein binding Cellular component • cytoplasm • microtubule Biological process • multicellular organismal development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	22911	99512
Ensembl	ENSG00000085433	ENSMUSG00000040389
UniProt	O94967	Q8CGF6
RefSeq (mRNA)	NM_001142550	NM_181400
RefSeq (protein)	NP_001136022	NP_852065
Location (UCSC)	Chr 1: 108.97 – 109.04 Mb	Chr 3: 108.59 – 108.65 Mb
PubMed search

WD repeat domain 47 is a protein that in humans is encoded by the WDR47 gene.^[1]

Model organisms

Wdr47 knockout mouse phenotype

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	Abnormal[2]
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal[3]
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Abnormal
Eye Histopathology	Normal
Citrobacter infection	Normal[4]
All tests and analysis from[5][6]

Model organisms have been used in the study of WDR47 function. A conditional knockout mouse line, called Wdr47^{tm1a(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-six tests were carried out on mutant mice and three significant abnormalities were observed.^[5] Homozygous mutant animals had an absence of corpus callosum and increased circulating alkaline phosphatase levels. Male homozygous mice also had abnormal indirect calorimetry measures.^[5]

See also

• WD repeat

References

1. "Entrez Gene: WD repeat domain 47". Retrieved 2011-08-30.
2. "Indirect calorimetry data for Wdr47". Wellcome Trust Sanger Institute.
3. "Clinical chemistry data for Wdr47". Wellcome Trust Sanger Institute.
4. "Citrobacter infection data for Wdr47". Wellcome Trust Sanger Institute.
5. 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.
6. Mouse Resources Portal, Wellcome Trust Sanger Institute.
7. "International Knockout Mouse Consortium".
8. "Mouse Genome Informatics".
9. 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 (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
10. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
11. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
12. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Dec 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS (Dec 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.