COL24A1

Collagen, type XXIV, alpha 1
Identifiers
Symbol	COL24A1
External IDs	OMIM: 610025 HomoloGene: 65061 GeneCards: COL24A1 Gene
Gene ontology Molecular function • extracellular matrix structural constituent • protein binding Cellular component • extracellular region • proteinaceous extracellular matrix • collagen trimer • endoplasmic reticulum lumen Biological process • hematopoietic progenitor cell differentiation • extracellular matrix organization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	255631	71355
Ensembl	ENSG00000171502	ENSMUSG00000028197
UniProt	Q17RW2	Q30D77
RefSeq (mRNA)	NM_152890	NM_027770
RefSeq (protein)	NP_690850	NP_082046
Location (UCSC)	Chr 1: 85.73 – 86.16 Mb	Chr 3: 145.29 – 145.55 Mb
PubMed search

Collagen, type XXIV, alpha 1 is a protein that in humans is encoded by the COL24A1 gene.^[1]

Model organisms

Model organisms have been used in the study of COL24A1 function. A conditional knockout mouse line called Col24a1^{tm1b(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[2] Male and female animals underwent a standardized phenotypic screen^[3] to determine the effects of deletion.^[4][5][6][7] Additional screens performed: - In-depth immunological phenotyping^[8] - in-depth bone and cartilage phenotyping^[9]

Col24a1 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[3][8][9]
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

1. "Entrez Gene: Collagen, type XXIV, alpha 1".
2. 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.
3. "International Mouse Phenotyping Consortium".
4. 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.
5. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
6. 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.
7. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
8. "Infection and Immunity Immunophenotyping (3i) Consortium".
9. "OBCD Consortium".