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Gene Review

Col3a1  -  collagen, type III, alpha 1

Mus musculus

Synonyms: AW550625, Col3a-1, Collagen alpha-1(III) chain, MMS10-W, Ms10w, ...
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High impact information on Col3a1

  • Furthermore, mice heterozygous for Col3a1 "null" alleles have no identified phenotype [1].
  • To directly study the role of Col3a1 in development and disease, we have inactivated the Col3a1 gene in embryonic stem cells by homologous recombination [2].
  • To facilitate the genetic mapping of 27 microclones from this library, we divided a 56-cM segment of chromosome 1 between the Col3a1 and Ren 1,2 genes into eight intervals defined by anchor loci [3].
  • Therefore, the mouse loci Col3a1 and Col6a3 are identified as flanking markers of the linkage group of structural protein loci [4].
  • The proposed gene order of this group of linked markers is centromere - Col3a1 - Len-2-Fn-1-Vil-Acrg-Col6a3-Ren1,2 [4].

Biological context of Col3a1


Anatomical context of Col3a1

  • These data indicate that sequences from -96 to +16bp of the Col3a1 promoter play an important role in the upregulated expression of this gene in Tsk2/+ fibroblasts and that the promoter contains sequences which bind the trans-acting nuclear factors, Sp1(like) and NF-1(like) [5].


  1. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Schwarze, U., Schievink, W.I., Petty, E., Jaff, M.R., Babovic-Vuksanovic, D., Cherry, K.J., Pepin, M., Byers, P.H. Am. J. Hum. Genet. (2001) [Pubmed]
  2. Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  3. Characterization of a region-specific library of microclones in the vicinity of the Bcg and splotch loci on mouse chromosome 1. Epstein, D.J., Bardeesy, N., Vidal, S., Malo, D., Weith, A., Vekemans, M., Gros, P. Genomics (1994) [Pubmed]
  4. Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Schurr, E., Skamene, E., Morgan, K., Chu, M.L., Gros, P. Genomics (1990) [Pubmed]
  5. Transcriptional activation of alpha 1(III) procollagen gene in Tsk2/+ dermal fibroblasts. Christner, P.J., Yufit, T., Peters, J., McGrath, R., Conway, R.F., Jiménez, S.A. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
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