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Col1a2 Gene Detail
 Symbol
Name
ID
Col1a2
collagen, type I, alpha 2
MGI:88468


Nomenclature History
STS D6Mit138
Synonyms Col1a-2, Cola-2, Cola2
Genetic Map
Chromosome 6
0.68 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 21)

Sequence Map
Chr6:4454814-4491543 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; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Col1a2 ± 2 cM)
Protein SuperFamily: collagen alpha 1(I) chain
TreeFam: TF323987
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000021300 VEGA Gene Model | MGI Sequence Detail 36730 C57BL/6J ± Kb
transcript NM_007743 RefSeq | MGI Sequence Detail 5143 C57BL/6
polypeptide Q01149 UniProt | EBI | MGI Sequence Detail 1372 Not Applicable
For the selected sequences
All sequences(58)
Alleles
and
phenotypes
All alleles(3) : Targeted, other(1) Gene trapped(1) Spontaneous(1)
Animals homozygous for a mutation in this gene exhibit reduced body size, reduced bone density and cortical bone thickness, fractured and deformed long bones, dorsal kyphosis, and droopy wrists. Older mutants develop an abnormal gait.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (2)  
Polymorphisms RFLP(4) SNPs within 2kb(36 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(8)
Component collagen, collagen type I...
Function extracellular matrix structural constituent, platelet-derived growth factor binding...
External Resources: MouseFunc
Expression Literature Summary: (62 records)
Data Summary: Assays (7)    Results (32)    Tissues (26)    Images (6)
Theiler Stages: 16,19,20,21,22,24,25,26,28
  Assay Type Assays   Results
      RT-PCR 3   12
      RNA in situ 3   18
      Northern blot 1   2
cDNA source data(1262)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(1278) Genomic(5) cDNA(1267) Primer pair(3) Other(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000029661
DoTS DT.101147361, DT.101157189, DT.101178459, DT.101399378, DT.101399406, DT.101715384, DT.91340938, DT.94311443
UniGene 277792
DFCI TC1573649, TC1710402, TC1717068
NIA Mouse Gene Index U006505
Entrez Gene 12843
VEGA Gene Model OTTMUSG00000021300
International Mouse Knockout Project Status Col1a2
Protein
domains
InterPro ID Description
IPR000885 Fibrillar collagen, C-terminal
IPR008160 Collagen triple helix repeat
Graphical View of Protein Domain Structure
References
(Earliest) J:7086 Shupp Byrne DE et al., "Assignment of the genes for mouse type I procollagen to chromosome 16 using mouse fibroblast-Chinese hamster somatic cell hybrids." Somatic Cell Genet 1983 May;9(3):313-31
(Latest) J:151466 Gamer LW et al., "Overexpression of BMP3 in the developing skeleton alters endochondral bone formation resulting in spontaneous rib fractures." Dev Dyn 2009 Aug 3;238(9):2374-2381
All references(142)
Other
accession IDs
MGD-MRK-13027, MGD-MRK-2060, MGD-MRK-2088, MGD-MRK-2090, MGI:2141374, MGI:2141395

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