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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
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:79506273-79626113 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 43.82 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3032 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88448
 protein coding gene Chr9:79506269-79628423 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035074
 protein coding gene Chr9:80125054-80251024 (-)
A/J MGP_AJ_G0035055
 protein coding gene Chr9:77392903-77513674 (-)
AKR/J MGP_AKRJ_G0034983
 protein coding gene Chr9:79192050-79314738 (-)
BALB/cJ MGP_BALBcJ_G0035043
 protein coding gene Chr9:77013468-77134494 (-)
C3H/HeJ MGP_C3HHeJ_G0034755
 protein coding gene Chr9:79713336-79837665 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035566
 protein coding gene Chr9:82312170-82438687 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032473
 protein coding gene Chr9:76534325-76654312 (-)
CAST/EiJ MGP_CASTEiJ_G0034073
 protein coding gene Chr9:80041307-80166409 (-)
CBA/J MGP_CBAJ_G0034728
 protein coding gene Chr9:85230271-85369591 (-)
DBA/2J MGP_DBA2J_G0034886
 protein coding gene Chr9:77000764-77120134 (-)
FVB/NJ MGP_FVBNJ_G0034829
 protein coding gene Chr9:76215147-76338356 (-)
LP/J MGP_LPJ_G0034967
 protein coding gene Chr9:80381360-80505862 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034871
 protein coding gene Chr9:86468849-86615001 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035587
 protein coding gene Chr9:79387041-79515202 (-)
PWK/PhJ MGP_PWKPhJ_G0033777
 protein coding gene Chr9:77197712-77319007 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033613
 protein coding gene Chr9:79532688-79667162 (-)
WSB/EiJ MGP_WSBEiJ_G0034190
 protein coding gene Chr9:79344073-79471684 (-)



Homology
more
  • Human Ortholog
    COL12A1, collagen type XII alpha 1 chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL12A1, collagen type XII alpha 1 chain
  • Synonyms
    BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2
  • Links
    NCBI Gene ID: 1303
    neXtProt AC: NX_Q99715
    UniProt: Q99715

  • Chr Location
    6q13-q14.1; chr6:75084326-75206267 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human COL12A1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 1 allele in 2 genetic backgrounds
    6 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    8
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    809
  • Tissues
    70
  • cDNA Data
    28
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032332 Ensembl Gene Model | MGI Sequence Detail 119841 C57BL/6J ±  kb
    transcript ENSMUST00000071750 Ensembl | MGI Sequence Detail 11511 Not Applicable  
    polypeptide ENSMUSP00000071662 Ensembl | MGI Sequence Detail 3065 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 6
      cDNA 34
      Primer pair 4
      Other 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-2055, MGI:2143350
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 25
      Gene Ontology 8
      Phenotypes 23
    • Earliest
      J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
    • Latest
      J:354188 Vallecillo-Garcia P, et al., Mesenchymal Osr1+ cells regulate embryonic lymphatic vessel formation. Development. 2024 Sep 1;151(17):dev202747
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory