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Col9a1 Gene Detail
 Symbol
Name
ID
Col9a1
collagen, type IX, alpha 1
MGI:88465


Nomenclature History
Synonyms Col9a-1
Genetic Map
Chromosome 1
15.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 6)

Sequence Map
Chr1:24184449-24259523 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Col9a1 ± 2 cM)
Protein SuperFamily: human herpesvirus 4 BHLF1 protein
TreeFam: TF332900
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000022796 VEGA Gene Model | MGI Sequence Detail 75075 C57BL/6J ± Kb
transcript NM_007740 RefSeq | MGI Sequence Detail 3888 C57BL/6
polypeptide Q05722 UniProt | EBI | MGI Sequence Detail 921 Not Applicable
For the selected sequences
All sequences(35)
Alleles
and
phenotypes
All alleles(2) : Targeted, knock-out(1) Gene trapped(1)
Homozygotes for a targeted mutation show no conspicuous skeletal abnormalities at birth but develop early-onset degenerative joint disease resembling osteoarthritis as well as progressive hearing loss; restoration and remodeling of trabecular bone is perturbed with minimal effects on cortical bone.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (2)  
Polymorphisms RFLP(2) SNPs within 2kb(737 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(8)
Process cartilage development, cell adhesion...
Component extracellular region, proteinaceous extracellular matrix...
Function metal ion binding, structural molecule activity...
External Resources: MouseFunc
Expression Literature Summary: (24 records)
Data Summary: Assays (9)    Results (36)    Tissues (19)    Images (6)
Theiler Stages: 16,17,19,20,21,22,24,25,26,28
  Assay Type Assays   Results
      Western blot 1   4
      RT-PCR 4   19
      RNA in situ 1   4
      Immunohistochemistry 1   2
      Northern blot 2   7
cDNA source data(104)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(112) Genomic(2) cDNA(106) Primer pair(4) Antibodies(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000026147
DoTS DT.101364657, DT.110917650, DT.97367838
UniGene 154662
DFCI TC1575100, TC1584852, TC1595111
NIA Mouse Gene Index U000107
Entrez Gene 12839
VEGA Gene Model OTTMUSG00000022796
International Mouse Knockout Project Status Col9a1
Protein
domains
InterPro ID Description
IPR003129 Laminin G, thrombospondin-type, N-terminal
IPR008160 Collagen triple helix repeat
IPR008985 Concanavalin A-like lectin/glucanase
Graphical View of Protein Domain Structure
References
(Earliest) J:11264 Metsaranta M et al., "Specific hybridization probes for mouse type I, II, III and IX collagen mRNAs." Biochim Biophys Acta 1991 Jun 13;1089(2):241-3
(Latest) J:148410 Combes AN et al., "Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development." Dev Dyn 2009 May;238(5):1033-41
All references(50)
Other
accession IDs
MGD-MRK-2083, MGD-MRK-2085

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory