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Gene Review

Col18a1  -  collagen, type XVIII, alpha 1

Mus musculus

Synonyms: Collagen alpha-1(XVIII) chain, endostatin
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High impact information on Col18a1

  • Mouse Col18a1 is expressed in a tissue-specific manner as three alternative variants and is localized in basement membrane zones [1].
  • We show here that in a specific C57BL background, 20% of the Col18a1(-/-) mice developed hydrocephalus, and dilation of the brain ventricles was observed by MRI in all of the mutant mice [2].
  • CONCLUSIONS: The abnormalities in the iris and ciliary body of Col18a1(-/-) mice demonstrate an important role of collagen XVIII for the function of ocular BMs [3].
  • The mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) is more than 102 kb and consists of 43 exons [4].
  • In addition, using an interspecific backcross panel, we have shown that the murine Col18a1 locus is on chromosome 10, close to the loci for Col6a1 and Col6a2 [5].

Biological context of Col18a1


Anatomical context of Col18a1


Other interactions of Col18a1

  • With fiber-FISH, Col18a1, Col6a1, and Col6a2 were shown to be in a head-to-tail configuration with respective intergenic distances of about 350 kb and 90 kb [9].
  • We also used MSCs to determine the transcriptional orientations, telomere--5'-->3'--centromere, of both Col13a1 and Col18a1 [9].
  • METHODS AND RESULTS: To test our hypothesis, we bred collagen XVIII-knockout (Col18a1(-/-)) mice into the atherosclerosis-prone apolipoprotein E-deficient (ApoE(-/-)) strain [7].

Analytical, diagnostic and therapeutic context of Col18a1


  1. Mouse Col18a1 is expressed in a tissue-specific manner as three alternative variants and is localized in basement membrane zones. Muragaki, Y., Timmons, S., Griffith, C.M., Oh, S.P., Fadel, B., Quertermous, T., Olsen, B.R. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  2. Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. Utriainen, A., Sormunen, R., Kettunen, M., Carvalhaes, L.S., Sajanti, E., Eklund, L., Kauppinen, R., Kitten, G.T., Pihlajaniemi, T. Hum. Mol. Genet. (2004) [Pubmed]
  3. Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome. Marneros, A.G., Olsen, B.R. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  4. Characterization of the mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters. Rehn, M., Hintikka, E., Pihlajaniemi, T. Genomics (1996) [Pubmed]
  5. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. Oh, S.P., Warman, M.L., Seldin, M.F., Cheng, S.D., Knoll, J.H., Timmons, S., Olsen, B.R. Genomics (1994) [Pubmed]
  6. Chromosomal localization of the murine RFC-1 gene encoding a folate transporter and its amplification in an antifolate resistant variant overproducing the transporter. Roy, K., Chiao, J.H., Spengler, B.A., Tolner, B., Yang, C.H., Biedler, J.L., Sirotnak, F.M. Cancer Genet. Cytogenet. (1998) [Pubmed]
  7. Loss of collagen XVIII enhances neovascularization and vascular permeability in atherosclerosis. Moulton, K.S., Olsen, B.R., Sonn, S., Fukai, N., Zurakowski, D., Zeng, X. Circulation (2004) [Pubmed]
  8. Abnormal maturation of the retinal vasculature in type XVIII collagen/endostatin deficient mice and changes in retinal glial cells due to lack of collagen types XV and XVIII. Hurskainen, M., Eklund, L., Hägg, P.O., Fruttiger, M., Sormunen, R., Ilves, M., Pihlajaniemi, T. FASEB J. (2005) [Pubmed]
  9. Physical mapping of mouse collagen genes on chromosome 10 by high-resolution FISH. Sallinen, R., Latvanlehto, A., Kvist, A.P., Rehn, M., Eerola, I., Chu, M.L., Bonaldo, P., Saitta, B., Bressan, G.M., Pihlajaniemi, T., Vuorio, E., Palotie, A., Wessman, M., Horelli-Kuitunen, N. Mamm. Genome (2001) [Pubmed]
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