C2orf54

MAB21L4
Identifiers
Aliases	MAB21L4, chromosome 2 open reading frame 54, mab-21 like 4, C2orf54
External IDs	MGI: 1919124 HomoloGene: 11761 GeneCards: MAB21L4
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	240,896,889 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	93,088,670 bp[2]
RNA expression pattern
	Top expressed in
	skin of abdomen; ; epithelium of esophagus; ; cervix epithelium; ; cavity of mouth; ; vagina; ; amniotic fluid; ; gums; ; right lung; ; upper lobe of left lung; ; thymus;
	Top expressed in
	esophagus; ; conjunctival fornix; ; lip; ; skin of abdomen; ; right lung lobe; ; cornea; ; left lung lobe; ; skin of back; ; ileum; ; epidermis;
	More reference expression data
	n/a
Orthologs
	79919
	71874
	ENSG00000172478
	ENSMUSG00000034159
	Q08AI8
	Q8CEZ4
	NM_001085437; NM_001282921; NM_024861
	NM_001159940; NM_172411
	NP_001078906; NP_001269850; NP_079137
	NP_001153412; NP_765999
	Wikidata
View/Edit Human	View/Edit Mouse

Chromosome 2 open reading frame 54, otherwise known as Mab21L4, is a protein that in humans is encoded by the C2orf54 gene.[5] The orthologue in mice is 2310007B03Rik.[5]

Model organisms

*2310007B03Rik* 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	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
Eye Histopathology	Normal
Salmonella infection	Normal[6]
Citrobacter infection	Normal[7]
All tests and analysis from[8][9]

Model organisms have been used in the study of C2orf54 function. A conditional knockout mouse line, called 2310007B03Rik^{tm1a(KOMP)Wtsi}[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty three tests were carried out on mutant mice, but no significant abnormalities were observed.[8]

References

GRCh38: Ensembl release 89: ENSG00000172478 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000034159 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Chromosome 2 open reading frame 54". Retrieved 2011-12-11.
"Salmonella infection data for 2310007B03Rik". Wellcome Trust Sanger Institute.
"Citrobacter infection data for 2310007B03Rik". Wellcome Trust Sanger Institute.
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. S2CID 85911512.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
"Mouse Genome Informatics".
Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 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.
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. S2CID 18872015.
van der Weyden L, White JK, Adams DJ, Logan DW (June 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000172478 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034159 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Chromosome 2 open reading frame 54". Retrieved 2011-12-11.

[''Salmonella''_infection-6] "Salmonella infection data for 2310007B03Rik". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-7] "Citrobacter infection data for 2310007B03Rik". Wellcome Trust Sanger Institute.

[mgp_reference-8] 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. S2CID 85911512.

[9] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-10] "International Knockout Mouse Consortium".

[mgi_allele_ref-11] "Mouse Genome Informatics".

[pmid21677750-12] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 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.

[mouse_library-13] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-14] 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. S2CID 18872015.

[pmid21722353-15] van der Weyden L, White JK, Adams DJ, Logan DW (June 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.