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Col12a1 Gene Detail
Summary
  • Symbol
    Col12a1
  • Name
    collagen, type XII, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88448
    NCBI Gene: 12816
Location & Maps
more
  • Sequence Map
    Chr9:79598991-79718831 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      119841 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COL12A1, collagen type XII alpha 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL12A1, collagen type XII alpha 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BA209D8.1, COL12A1L, DJ234P15.1
  • Links
    NCBI Gene ID: 1303
    neXtProt AC: NX_Q99715

  • Chr Location
    6q12-q13; chr6:75084326-75206202 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human COL12A1 associations

Human Disease Mouse Models
       Bethlem Myopathy 2; BTHLM2   OMIM: 616471
Ullrich Congenital Muscular Dystrophy 2; UCMD2   OMIM: 616470
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 1 allele in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Col12a1
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    629 from dbSNP Build 137
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 43
    Genomic 6
    cDNA 33
    Primer pair 1
    Other 3

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-2055, MGI:2143350
References
more
  • Summaries
    All 40
    Developmental Gene Expression 10
    Gene Ontology 4
    Phenotypes 12
  • 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

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
02/02/2016
MGI 6.02
The Jackson Laboratory