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; chr17:48261457-48279000 (-)  GRCh37.p10
Disease Associations		(9) Diseases Associated with Human COL1A1

Alleles and phenotypes

All alleles(58) : Targeted(52) Gene trapped(3) Transgenic(1) Chemically induced(2)
 

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 (4)    Alleles Annotated to Human Diseases(8)    Phenotype Images(10)

Gene Ontology (GO) classifications

All GO classifications: (47 annotations)

Process	blood vessel development, bone trabecula formation, ...
Component	collagen, collagen type I, ...
Function	extracellular matrix structural constituent, identical protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (231 records)
Data Summary: Results (211)    Tissues (139)    Images (62)
Theiler Stages: 11, 13, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	22
RNA in situ	134
Northern blot	35
Western blot	4
RT-PCR	16

cDNA source data(16)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(42) Genomic(12) cDNA(23) Primer pair(6) 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 Knockout Project Status	Col1a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000002059	VEGA Gene Model | MGI Sequence Detail	16819	C57BL/6J
transcript	OTTMUST00000004184	VEGA | MGI Sequence Detail	5930	Not Applicable
polypeptide	OTTMUSP00000002001	VEGA | MGI Sequence Detail	1453	Not Applicable

All sequences(48) RefSeq(2) UniProt(3)

Polymorphisms

All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs(62 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008160	Collagen triple helix repeat
InterPro	IPR000885	Fibrillar collagen, C-terminal
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:194608 Sehrawat S, et al., A catalytically inactive mutant of the deubiquitylase YOD-1 enhances antigen cross-presentation. Blood. 2013 Feb 14;121(7):1145-56
All references(429)

Other accession IDs

MGD-MRK-12362, MGD-MRK-12380, MGD-MRK-2059, MGD-MRK-2087, MGD-MRK-2089