Col1a2
Gene Detail

Symbol Name ID

Col1a2 collagen, type I, alpha 2 MGI:88468

STS

D6Mit138

Synonyms

Col1a-2, Cola2, Cola-2

Feature Type

protein coding gene

Genetic Map

Chromosome 6

1.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(21)

Sequence Map

Chr6:4504814-4541543 bp, + strand From VEGA annotation of GRCm38   36730 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:69  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col1a2

Human homologs

Human Homolog		COL1A2, collagen, type I, alpha 2
NCBI Gene ID		1278
neXtProt AC		NX_P08123
Human Synonyms		OI4
Human Chr (Location)		7q22.1; chr7:94023873-94060544 (+)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human COL1A2

Alleles and phenotypes

All alleles(6) : Targeted(4) 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.

 
Human Diseases Modeled Using Mouse Col1a2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (25 annotations)

Process	blood vessel development, cellular response to amino acid stimulus, ...
Component	collagen, collagen type I, ...
Function	extracellular matrix structural constituent, identical protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (97 records)
Data Summary: Results (167)    Tissues (80)    Images (27)
Theiler Stages: 16, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	22
RNA in situ	125
Northern blot	2
Western blot	4
RT-PCR	14

cDNA source data(1255)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(1274) Genomic(5) cDNA(1261) Primer pair(4) Other(4)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000021300 (Evidence)
Ensembl Gene Model	ENSMUSG00000029661 (Evidence)
Entrez Gene	12843 (Evidence)
UniGene	277792
DFCI	TC1573649, TC1647216, TC1710402, TC1717068
DoTS	DT.101147361, DT.101157189, DT.101178459, DT.101399378, DT.101399406, DT.101715384, DT.91340938, DT.91360272, DT.94311443
NIA Mouse Gene Index	U006505
Consensus CDS Project	CCDS39420.1
International Mouse Knockout Project Status	Col1a2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021300	VEGA Gene Model | MGI Sequence Detail	36730	C57BL/6J
transcript	OTTMUST00000050501	VEGA | MGI Sequence Detail	5347	Not Applicable
polypeptide	OTTMUSP00000023584	VEGA | MGI Sequence Detail	1372	Not Applicable

All sequences(82) RefSeq(2) UniProt(7)

Polymorphisms

RFLP(4) : SNPs(36 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008160	Collagen triple helix repeat
InterPro	IPR000885	Fibrillar collagen, C-terminal
Protein Ontology	PR:000003265	collagen alpha-2(I) chain

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:193818 Vanleene M, et al., Therapeutic impact of low amplitude high frequency whole body vibrations on the osteogenesis imperfecta mouse bone. Bone. 2013 Apr;53(2):507-14
All references(228)

Other accession IDs

MGD-MRK-13027, MGD-MRK-2060, MGD-MRK-2088, MGD-MRK-2090, MGI:2141374, MGI:2141395