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Col1a1
Gene Detail
 Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Synonyms Col1a-1, Cola1, Cola-1, Mov-13
Feature Type protein coding gene
Genetic Map
Chromosome 11
59.01 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(16)
Sequence Map
Chr11:94936224-94953042 bp, + strand
From VEGA annotation of GRCm38

  16819 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:73874  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Col1a1

Human
homologs
Human Homolog COL1A1, collagen, type I, alpha 1
NCBI Gene ID 1277
neXtProt AC  NX_P02452
Human Synonyms  OI4
Human Chr (Location)  17q21.33; chr17:50184096-50201642 (-)  GRCh38
Disease Associations  (9) Diseases Associated with Human COL1A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(70) : Chemically induced (ENU)(2) Gene trapped(3) Targeted(64) Transgenic(1)
Genomic Mutations involving Col1a1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, and aortic dissection.
 
Human Diseases Modeled Using Mouse Col1a1 (5)    Alleles Annotated to Human Diseases(10)    Phenotype Images(10)
Interactions
Col1a1 interacts with 293 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (50 annotations)
Process blood vessel development, bone trabecula formation, ...
Component collagen trimer, collagen type I trimer, ...
Function extracellular matrix structural constituent, identical protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (246 records)
Data Summary: Results (281)    Tissues (167)    Images (101)
Theiler Stages: 11, 13, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 68
RNA in situ 146
Northern blot 35
Western blot 16
RT-PCR 16
cDNA source data(18)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(44) Genomic(12) cDNA(25) Primer pair(6) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000002059 (Evidence)
Ensembl Gene ModelENSMUSG00000001506 (Evidence)
Entrez Gene12842 (Evidence)
DFCITC1573738, TC1591704
DoTSDT.101336575, DT.101405810, DT.533109, DT.91440848, DT.94383895
NIA Mouse Gene IndexU013212
Consensus CDS ProjectCCDS25265.1
International Mouse Knockout Project StatusCol1a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002059 VEGA Gene Model | MGI Sequence Detail 16819 C57BL/6J ±  kb
transcript OTTMUST00000004184 VEGA | MGI Sequence Detail 5930 Not Applicable 
polypeptide OTTMUSP00000002001 VEGA | MGI Sequence Detail 1453 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(2) UniProt(3)
Polymorphisms All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(95 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR014716 Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1
InterPro IPR001007 von Willebrand factor, type C
Protein Ontology PR:000003264 collagen alpha-1(I) chain
References (Earliest) J:6514 Jaenisch R, et al., Chromosomal position and activation of retroviral genomes inserted into the germ line of mice. Cell. 1981 May;24(2):519-29
(Latest) J:208851 Chakkalakal JV, et al., Early forming label-retaining muscle stem cells require p27kip1 for maintenance of the primitive state. Development. 2014 Apr;141(8):1649-59
All references(477)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-12362, MGD-MRK-12380, MGD-MRK-2059, MGD-MRK-2087, MGD-MRK-2089

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory