Gene Symbol: Col9a1
Description: collagen, type IX, alpha 1
Alias: Col9a-1, collagen alpha-1(IX) chain, alpha 1 type IX collagen, procollagen, type IX, alpha 1
Species: mouse
Products:     Col9a1

Top Publications

  1. Metsaranta M, Toman D, de Crombrugghe B, Vuorio E. Specific hybridization probes for mouse type I, II, III and IX collagen mRNAs. Biochim Biophys Acta. 1991;1089:241-3 pubmed
    ..The clone for mouse alpha 1(IX) collagen covers coding sequences but is sufficiently divergent from other collagen transcripts to allow specific detection of the corresponding mRNA. ..
  2. Fassler R, Schnegelsberg P, Dausman J, Shinya T, Muragaki Y, McCarthy M, et al. Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease. Proc Natl Acad Sci U S A. 1994;91:5070-4 pubmed
    ..Homozygous mutant mice are viable and show no detectable abnormalities at birth but develop a severe degenerative joint disease resembling human osteoarthritis. ..
  3. Nakata K, Ono K, Miyazaki J, Olsen B, Muragaki Y, Adachi E, et al. Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion. Proc Natl Acad Sci U S A. 1993;90:2870-4 pubmed
    ..Therefore, the phenotypic severity correlated well with the level of transgene expression. These findings suggest that mutations in type IX collagen genes may cause certain forms of osteoarthritis and chondrodysplasia in humans. ..
  4. Savontaus M, Metsaranta M, Vuorio E. Mutation in type II collagen gene disturbs spinal development and gene expression patterns in transgenic Del1 mice. Lab Invest. 1997;77:591-600 pubmed
    ..Many of these findings parallel those seen in human chondrodysplasias and help us to understand the pathogenetic mechanisms involved in these developmental abnormalities. ..
  5. Hiltunen A, Metsaranta M, Perala M, Säämänen A, Aro H, Vuorio E. Expression of type VI, IX and XI collagen genes and alternative splicing of type II collagen transcripts in fracture callus tissue in mice. FEBS Lett. 1995;364:171-4 pubmed
    ..Finally, the current data suggest that the abnormality in bone remodelling in Del1 mice involves activation of the genes coding for alpha 1(XI) and alpha 2(VI) collagens. ..
  6. Giros B, Pohl M, Rochelle J, Seldin M. Chromosomal localization of opioid peptide and receptor genes in the mouse. Life Sci. 1995;56:PL369-75 pubmed
    ..Interestingly, the gene for the mu receptor is located in the same region as a Quantitative Trait Locus for high morphine consumption, thus raising the possibility of its direct role in drug abuse mechanisms. ..
  7. Usami S, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, et al. The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea. Neuroscience. 2008;154:22-8 pubmed publisher
    ..examined the immunocytochemical localization of the proteins encoded by Crym, KIAA1199 homolog, Uba52, Col9a3, and Col9a1 in the cochlea of rats and mice. Confocal microscopic immunocytochemistry was performed on cryostat sections...
  8. Tamamura Y, Otani T, Kanatani N, Koyama E, Kitagaki J, Komori T, et al. Developmental regulation of Wnt/beta-catenin signals is required for growth plate assembly, cartilage integrity, and endochondral ossification. J Biol Chem. 2005;280:19185-95 pubmed
  9. Carlsen S, Nandakumar K, Holmdahl R. Type IX collagen deficiency enhances the binding of cartilage-specific antibodies and arthritis severity. Arthritis Res Ther. 2006;8:R102 pubmed
    ..In this study we have backcrossed a transgenic disruption of the col9a1 gene, which leads to an absence of CIX, into two different inbred mouse strains, DBA/1 and B10.Q...

More Information


  1. Posey K, Hankenson K, Veerisetty A, Bornstein P, Lawler J, Hecht J. Skeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagen. Am J Pathol. 2008;172:1664-74 pubmed publisher
  2. Sumiyoshi H, Inoguchi K, Khaleduzzaman M, Ninomiya Y, Yoshioka H. Ubiquitous expression of the alpha1(XIX) collagen gene (Col19a1) during mouse embryogenesis becomes restricted to a few tissues in the adult organism. J Biol Chem. 1997;272:17104-11 pubmed
    ..We therefore propose that type XIX collagen plays a distinct role from the other FACIT molecules, particularly in the assembly of embryonic matrices and in the maintenance of specific adult tissues. ..
  3. Miyaki S, Sato T, Inoue A, Otsuki S, Ito Y, Yokoyama S, et al. MicroRNA-140 plays dual roles in both cartilage development and homeostasis. Genes Dev. 2010;24:1173-85 pubmed publisher
    ..We show that miR-140 regulates cartilage development and homeostasis, and its loss contributes to the development of age-related OA-like changes. ..
  4. Ting K, Ramachandran H, Chung K, Shah Hosseini N, Olsen B, Nishimura I. A short isoform of Col9a1 supports alveolar bone repair. Am J Pathol. 1999;155:1993-9 pubmed
    ..chain reaction demonstrated the exclusive expression of short transcriptional isoform of alpha1(IX) collagen (Col9a1) in alveolar bone wound healing, while the long isoform of Col9a1 transcript was absent...
  5. Rahkonen O, Savontaus M, Abdelwahid E, Vuorio E, Jokinen E. Expression patterns of cartilage collagens and Sox9 during mouse heart development. Histochem Cell Biol. 2003;120:103-10 pubmed
    ..These observations support the hypothesis that cartilage collagens, especially the long isoform of type II collagen, participate in the morphogenesis of cardiac valves and septa. ..
  6. Inagaki M, Irie K, Ishizaki H, Tanaka Okamoto M, Morimoto K, Inoue E, et al. Roles of cell-adhesion molecules nectin 1 and nectin 3 in ciliary body development. Development. 2005;132:1525-37 pubmed
  7. Asamura K, Abe S, Imamura Y, Aszodi A, Suzuki N, Hashimoto S, et al. Type IX collagen is crucial for normal hearing. Neuroscience. 2005;132:493-500 pubmed
    cDNA microarray analysis indicated that COL9A1 and COL9A3 are highly expressed in the human inner ear, suggesting that type IX collagen has a crucial functional role in the inner ear...
  8. Brachvogel B, Zaucke F, Dave K, Norris E, Stermann J, Dayakli M, et al. Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome. J Biol Chem. 2013;288:13481-92 pubmed publisher
    ..Collagen IX is an integral cartilage extracellular matrix component important in skeletal development and joint function...
  9. Liu C, Olsen B, Kao W. Developmental patterns of two alpha 1(IX) collagen mRNA isoforms in mouse. Dev Dyn. 1993;198:150-7 pubmed
    ..Furthermore, in situ hybridization was used to identify cells expressing the Col9a1 gene during eye development...
  10. Liu H, Lan Y, Xu J, Chang C, Brugmann S, Jiang R. Odd-skipped related-1 controls neural crest chondrogenesis during tongue development. Proc Natl Acad Sci U S A. 2013;110:18555-60 pubmed publisher
  11. Lincoln J, Florer J, Deutsch G, Wenstrup R, Yutzey K. ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn. 2006;235:3295-305 pubmed
  12. Dreier R, Opolka A, Grifka J, Bruckner P, Grassel S. Collagen IX-deficiency seriously compromises growth cartilage development in mice. Matrix Biol. 2008;27:319-29 pubmed publisher
    ..As a result, all long bones are shorter and broader in newborn Col9a1-/- mice...
  13. Wang C, Iida K, Egusa H, Hokugo A, Jewett A, Nishimura I. Trabecular bone deterioration in col9a1+/- mice associated with enlarged osteoclasts adhered to collagen IX-deficient bone. J Bone Miner Res. 2008;23:837-49 pubmed publisher
    ..IX, the exclusive isoform expressed by osteoblasts, is synthesized through alternative transcription of the col9a1 gene. The function of short collagen IX in bone was characterized in col9a1-null mutant mice...
  14. Chen Z, Huang J, Liu Y, Dattilo L, Huh S, Ornitz D, et al. FGF signaling activates a Sox9-Sox10 pathway for the formation and branching morphogenesis of mouse ocular glands. Development. 2014;141:2691-701 pubmed publisher
  15. Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999;214:279-90 pubmed
    ..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation. ..
  16. Perala M, Savontaus M, Metsaranta M, Vuorio E. Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis. Biochem J. 1997;324 ( Pt 1):209-16 pubmed
    ..5 of embryonic development. These results suggest a relatively tight co-ordination of the alpha1(IX), alpha2(IX), and alpha3(IX) collagen mRNA species in chondrocytes, but a lack of co-ordination in several non-cartilaginous tissues. ..
  17. Rokos I, Muragaki Y, Warman M, Olsen B. Assembly and sequencing of a cDNA covering the entire mouse alpha 1(IX) collagen chain. Matrix Biol. 1994;14:1-8 pubmed
  18. Opolka A, Ratzinger S, Schubert T, Spiegel H, Grifka J, Bruckner P, et al. Collagen IX is indispensable for timely maturation of cartilage during fracture repair in mice. Matrix Biol. 2007;26:85-95 pubmed
    ..Entering the remodeling phase of fracture healing, Col9a1(-/-) calli retained a larger percentage of cartilage matrix than in wild type indicating also a delayed formation ..
  19. Takanosu M, Boyd T, Le Goff M, Henry S, Zhang Y, Bishop P, et al. Structure, chromosomal location, and tissue-specific expression of the mouse opticin gene. Invest Ophthalmol Vis Sci. 2001;42:2202-10 pubmed
    ..Opticin may represent a marker for ciliary body differentiation. Continued expression of opticin in the adult mouse eye suggests functions other than that of putative regulator of vitreous collagen fibrillogenesis. ..
  20. Little M, Brennan J, Georgas K, Davies J, Davidson D, Baldock R, et al. A high-resolution anatomical ontology of the developing murine genitourinary tract. Gene Expr Patterns. 2007;7:680-99 pubmed
    ..Visual examples of how terms appear in different specimen types are also provided...
  21. Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, et al. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006;103:19004-9 pubmed
    ..In summary, SOX9 is dominant over RUNX2 function in mesenchymal precursors that are destined for a chondrogenic lineage during endochondral ossification...
  22. Warman M, Tiller G, Polumbo P, Seldin M, Rochelle J, Knoll J, et al. Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1). Genomics. 1993;17:694-8 pubmed
    ..In this paper we confirm the mapping of the human COL9A1 gene to chromosome 6q12-q13 by fluorescence in situ hybridization utilizing two genomic clones which also contain ..
  23. Makino Y, Takahashi Y, Tanabe R, Tamamura Y, Watanabe T, Haraikawa M, et al. Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. Bone. 2013;53:248-58 pubmed publisher
    ..The current observations of the spatiotemporal disorder of vertebral organogenesis in the Mesp2-null mice provide further insight into the pathogenesis of SCDO and STDO, and the physiological development of the axial skeleton. ..
  24. Savontaus M, Metsranta M, Vuorio E. Retarded skeletal development in transgenic mice with a type II collagen mutation. Am J Pathol. 1996;149:2169-82 pubmed
  25. Wai A, Ng L, Watanabe H, Yamada Y, Tam P, Cheah K. Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant. Dev Genet. 1998;22:349-58 pubmed
    ..alpha 2(XI) [Col11a2], and the alternative transcripts of alpha 1 (II) [Col2a1 type IIA form], and alpha 1 (IX) [Col9a1 long and short forms]...
  26. Zhu L, Hathcock K, Hande P, Lansdorp P, Seldin M, Hodes R. Telomere length regulation in mice is linked to a novel chromosome locus. Proc Natl Acad Sci U S A. 1998;95:8648-53 pubmed
    ..This locus is distinct from candidate genes encoding known telomere-binding proteins or telomerase components. These results demonstrate that an unidentified gene(s) mapped to distal chromosome 2 regulates telomere length in the mouse. ..
  27. Blumbach K, Bastiaansen Jenniskens Y, DeGroot J, Paulsson M, van Osch G, Zaucke F. Combined role of type IX collagen and cartilage oligomeric matrix protein in cartilage matrix assembly: cartilage oligomeric matrix protein counteracts type IX collagen-induced limitation of cartilage collagen fibril growth in mouse chondrocyte cultu. Arthritis Rheum. 2009;60:3676-85 pubmed publisher
    ..Loss of type IX collagen and COMP leads to matrix aberrations that may make cartilage more susceptible to degeneration. ..
  28. Aszodi A, Chan D, Hunziker E, Bateman J, Fassler R. Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J Cell Biol. 1998;143:1399-412 pubmed
  29. Costello K, Guilak F, Setton L, Griffin T. Locomotor activity and gait in aged mice deficient for type IX collagen. J Appl Physiol (1985). 2010;109:211-8 pubmed publisher
    ..Male mice homozygous for a Col9a1 gene inactivation (Col9a1(-/-)) develop early onset knee OA, increased tactile pain sensitivity, and gait ..
  30. Aszodi A, Hunziker E, Olsen B, Fassler R. The role of collagen II and cartilage fibril-associated molecules in skeletal development. Osteoarthritis Cartilage. 2001;9 Suppl A:S150-9 pubmed
    ..Mice lacking collagen IX (Col9a1-/-) are viable and develop an osteoarthritis-like phenotype in knee joints between 9-12 months of age...
  31. Allen K, Griffin T, Rodriguiz R, Wetsel W, Kraus V, Huebner J, et al. Decreased physical function and increased pain sensitivity in mice deficient for type IX collagen. Arthritis Rheum. 2009;60:2684-93 pubmed publisher
    In mice with Col9a1 gene inactivation (Col9a1(-/-)), osteoarthritis (OA) and intervertebral disc degeneration develop prematurely...
  32. Suzuki N, Asamura K, Kikuchi Y, Takumi Y, Abe S, Imamura Y, et al. Type IX collagen knock-out mouse shows progressive hearing loss. Neurosci Res. 2005;51:293-8 pubmed
    ..Electron microscopy confirmed disturbance of organization of the collagen fibrils. These results suggest that mutations in type IX collagen genes may lead to abnormal integrity of collagen fibers in the tectorial membrane. ..
  33. Blumbach K, Niehoff A, Paulsson M, Zaucke F. Ablation of collagen IX and COMP disrupts epiphyseal cartilage architecture. Matrix Biol. 2008;27:306-18 pubmed publisher
    ..The contribution of COMP to the phenotype of mice deficient in both collagen IX and COMP appears minor, even though clear differences in the deposition of matrilin-3 were detected. ..
  34. Muragaki Y, Nishimura I, Henney A, Ninomiya Y, Olsen B. The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA. Proc Natl Acad Sci U S A. 1990;87:2400-4 pubmed
    ..One type of transcript does not contain the sequence encoded by exon 1*; the second type of transcript contains this exon. Both mouse and human alpha 1(IX) collagen genes give rise, therefore, to (at least) two mRNA transcripts. ..
  35. McClive P, Sinclair A. Type II and type IX collagen transcript isoforms are expressed during mouse testis development. Biol Reprod. 2003;68:1742-7 pubmed
    ..5 dpc. This was accompanied by increasing expression of nonchondrocytic Col9a1, Col9a2, and Col9a3, first detected at 11.5 dpc...
  36. Olsen B. Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias. Bone. 1995;17:45S-49S pubmed
  37. Boyd L, Richardson W, Allen K, Flahiff C, Jing L, Li Y, et al. Early-onset degeneration of the intervertebral disc and vertebral end plate in mice deficient in type IX collagen. Arthritis Rheum. 2008;58:164-71 pubmed publisher assess the prevalence and timeline of intervertebral disc degeneration in mice homozygous for an inactivated Col9a1 gene...
  38. Budde B, Blumbach K, Ylostalo J, Zaucke F, Ehlen H, Wagener R, et al. Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX. Mol Cell Biol. 2005;25:10465-78 pubmed
    ..Mice harboring a deleted Col9a1 gene lack synthesis of a functional protein and produce cartilage fibrils completely devoid of collagen IX...
  39. Savontaus M, Rintala Jämsä M, Morko J, Ronning O, Metsaranta M, Vuorio E. Abnormal craniofacial development and expression patterns of extracellular matrix components in transgenic Del1 mice harboring a deletion mutation in the type II collagen gene. Orthod Craniofac Res. 2004;7:216-26 pubmed
    ..In addition to affecting endochondral ossification, the type II collagen mutation also disturbs intramembranous ossification in the developing craniofacial skeleton. ..
  40. Belluoccio D, Etich J, Rosenbaum S, Frie C, Grskovic I, Stermann J, et al. Sorting of growth plate chondrocytes allows the isolation and characterization of cells of a defined differentiation status. J Bone Miner Res. 2010;25:1267-81 pubmed publisher
    ..This approach provides a novel platform to study cartilage development and characterize mouse growth plate chondrocytes to reveal unique cellular phenotypes of the distinct subpopulations within the growth plate. ..
  41. Costell M, Gustafsson E, Aszodi A, Morgelin M, Bloch W, Hunziker E, et al. Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol. 1999;147:1109-22 pubmed
  42. Yoshida I, Kimura H, Takagi N. The mouse Mcmd gene for DNA replication protein P1MCM3 maps to bands A3-A5 on chromosome 1 by fluorescence in situ hybridization. Genomics. 1996;32:483-4 pubmed
  43. Abe N, Yoshioka H, Inoue H, Ninomiya Y. The complete primary structure of the long form of mouse alpha 1(IX) collagen chain and its expression during limb development. Biochim Biophys Acta. 1994;1204:61-7 pubmed
    ..This could be due to active bone formation relative to cartilage synthesis in the embryonic limb bud around day 16 in mouse development. ..
  44. Taketo M, Matsui M, Rochelle J, Yodoi J, Seldin M. Mouse thioredoxin gene maps on chromosome 4, whereas its pseudogene maps on chromosome 1. Genomics. 1994;21:251-3 pubmed
    ..We have mapped the thioredoxin gene (Txn) and its processed pseudogene (Txn-ps1) in the mouse using a panel of interspecific backcross mice. Txn maps to Chr 4, whereas Txn-ps1 maps to the proximal region of Chr 1. ..
  45. Kamper M, Hamann N, Prein C, Clausen Schaumann H, Farkas Z, Aszodi A, et al. Early changes in morphology, bone mineral density and matrix composition of vertebrae lead to disc degeneration in aged collagen IX -/- mice. Matrix Biol. 2016;49:132-143 pubmed publisher
    ..The absence of Col IX induces early developmental, structural and biomechanical alterations in both vertebral body and intervertebral disc which eventually cause severe degenerative changes in the aging spine. ..
  46. Kamper M, Paulsson M, Zaucke F. Absence of collagen IX accelerates hypertrophic differentiation in the embryonic mouse spine through a disturbance of the Ihh-PTHrP feedback loop. Cell Tissue Res. 2017;367:359-367 pubmed publisher
  47. Saxon J, Baer D, Barton J, Hawkins T, Wu B, Trusk T, et al. BMP2 expression in the endocardial lineage is required for AV endocardial cushion maturation and remodeling. Dev Biol. 2017;430:113-128 pubmed publisher
    ..These data provide evidence that BMP2 expression in the endocardial lineage is essential for the distal outgrowth, maturation and remodeling of AV endocardial cushions into the normal membranous VS and the stratified AV valves. ..