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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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: COL1A1
Gene Tree: Col1a1

Human
homologs
COL1A1, collagen, type I, alpha 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1277
neXtProt AC: NX_P02452

Human Synonyms: EDSC, OI1, OI2, OI3, OI4

Human Chr (Location): 17q21.33; chr17:50184096-50201648 (-)  GRCh38.p2

Disease Associations: (9) Diseases Associated with Human COL1A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(97) : Chemically induced (ENU)(3) Gene trapped(3) Targeted(89) Transgenic(2)
Genomic Mutations involving Col1a1 (2)
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 in Mice Using Col1a1 (4)    Mutations Annotated to Human Diseases (13)    Phenotype Images(10)
Interactions
Col1a1 interacts with 292 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (269 records)
Data Summary: Results (289)    Tissues (174)    Images (102)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 68
RNA in situ 148
Northern blot 35
Western blot 18
RT-PCR 20
cDNA source data(18)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase col1a1 ; ZFIN col1a1a, col1a1b    NEW 
Molecular
reagents
All nucleic(45) Genomic(12) cDNA(25) Primer pair(7) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000002059 (Evidence)
Ensembl Gene Model ENSMUSG00000001506 (Evidence)
Entrez Gene 12842 (Evidence)
DFCI TC1573738, TC1591704
DoTS DT.101336575, DT.101405810, DT.533109, DT.91440848, DT.94383895
NIA Mouse Gene Index U013212
Consensus CDS Project CCDS25265.1
International Mouse Phenotyping Consortium Status Col1a1
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 VWFC domain
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:222916 Nguyen LT, et al., ERG Activates the YAP1 Transcriptional Program and Induces the Development of Age-Related Prostate Tumors. Cancer Cell. 2015 Jun 8;27(6):797-808
All references(527)
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
08/25/2015
MGI 6.0
The Jackson Laboratory