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Col12a1
Gene Detail
 Symbol
Name
ID
Col12a1
collagen, type XII, alpha 1
MGI:88448
Feature Type protein coding gene
Genetic Map
Chromosome 9
43.82 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr9:79598991-79718831 bp, - strand
From VEGA annotation of GRCm38

  119841 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3217  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col12a1

Human
homologs
Human Homolog COL12A1, collagen, type XII, alpha 1
NCBI Gene ID 1303
neXtProt AC  NX_Q99715
Human Synonyms  BA209D8.1, COL12A1L, DJ234P15.1
Human Chr (Location)  6q12-q13; chr6:75084326-75206051 (-)  GRCh38
Alleles
and
phenotypes
All alleles(6) : Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation.
 
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process cell adhesion
Component collagen trimer, collagen type XII trimer, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (88)    Tissues (60)    Images (28)
Theiler Stages: 10, 13, 15, 17, 18, 19, 20, 21, 23, 24, 25, 28
Assay TypeResults
Immunohistochemistry 54
RNA in situ 1
Northern blot 12
Western blot 4
RT-PCR 2
RNase protection 15
cDNA source data(27)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(43) Genomic(6) cDNA(33) Primer pair(1) Other(3)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000021365 (Evidence)
Ensembl Gene ModelENSMUSG00000032332 (Evidence)
Entrez Gene12816 (Evidence)
DFCITC1583076, TC1606566, TC1641760, TC1687224, TC1721674
DoTSDT.101736480, DT.103561639, DT.40146337, DT.40170754, DT.40182091, DT.55228289, DT.60118072
NIA Mouse Gene IndexU031126
Consensus CDS ProjectCCDS72284.1
International Mouse Knockout Project StatusCol12a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021365 VEGA Gene Model | MGI Sequence Detail 119841 C57BL/6J ±  kb
transcript OTTMUST00000071319 VEGA | MGI Sequence Detail 11511 Not Applicable 
polypeptide OTTMUSP00000036520 VEGA | MGI Sequence Detail 3065 Not Applicable 

For the selected sequences
All sequences(73) RefSeq(10) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(629 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR008985 Concanavalin A-like lectin/glucanases superfamily
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR003961 Fibronectin, type III
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR001791 Laminin G domain
InterPro IPR002035 von Willebrand factor, type A
Protein Ontology PR:000005696 collagen alpha-1(XII) chain
References (Earliest) J:2653 Oh SP, et al., The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6. Genomics. 1992 Oct;14(2):225-31
(Latest) J:209074 Zou Y, et al., Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52
All references(44)
Other
accession IDs
MGD-MRK-2055, MGI:2143350

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory