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Col11a1 Gene Detail
Summary
  • Symbol
    Col11a1
  • Name
    collagen, type XI, alpha 1
  • Synonyms
    C530001D20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88446
    NCBI Gene: 12814
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:113824189-114014367 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 49.35 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5748 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88446
 protein coding gene Chr3:113823933-114014405 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027801
 protein coding gene Chr3:115813864-116014272 (+)
A/J MGP_AJ_G0027759
 protein coding gene Chr3:112054055-112247020 (+)
AKR/J MGP_AKRJ_G0027725
 protein coding gene Chr3:114855174-115055050 (+)
BALB/cJ MGP_BALBcJ_G0027771
 protein coding gene Chr3:111902922-112097402 (+)
C3H/HeJ MGP_C3HHeJ_G0027502
 protein coding gene Chr3:115240529-115443984 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028217
 protein coding gene Chr3:120084719-120303809 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025556
 protein coding gene Chr3:107860119-108047252 (+)
CAST/EiJ MGP_CASTEiJ_G0026958
 protein coding gene Chr3:114492010-114706504 (+)
CBA/J MGP_CBAJ_G0027477
 protein coding gene Chr3:124197046-124416940 (+)
DBA/2J MGP_DBA2J_G0027618
 protein coding gene Chr3:111310093-111503757 (+)
FVB/NJ MGP_FVBNJ_G0027586
 protein coding gene Chr3:108999703-109188420 (+)
LP/J MGP_LPJ_G0027728
 protein coding gene Chr3:117371281-117569597 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027616
 protein coding gene Chr3:131226639-131519371 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028273
 protein coding gene Chr3:114445335-114644106 (+)
PWK/PhJ MGP_PWKPhJ_G0026684
 protein coding gene Chr3:110930208-111127743 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026506
 protein coding gene Chr3:112456273-112752885 (+)
WSB/EiJ MGP_WSBEiJ_G0027038
 protein coding gene Chr3:115087579-115298026 (+)



Homology
more
  • Human Ortholog
    COL11A1, collagen type XI alpha 1 chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL11A1, collagen type XI alpha 1 chain
  • Synonyms
    CO11A1, COLL6, DFNA37, STL2
  • Links
    NCBI Gene ID: 1301
    neXtProt AC: NX_P12107
    UniProt: P12107

  • Chr Location
    1p21.1; chr1:102876467-103108872 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Col11a1 mouse models; 4 with human COL11A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 2 alleles in 2 genetic backgrounds
    28 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.
Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    19
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
    1072
  • Tissues
    124
  • cDNA Data
    108
  • Literature Summary
    30
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027966 Ensembl Gene Model | MGI Sequence Detail 190179 C57BL/6J ±  kb
    transcript ENSMUST00000092155 Ensembl | MGI Sequence Detail 7667 Not Applicable  
    polypeptide ENSMUSP00000089793 Ensembl | MGI Sequence Detail 1804 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 121
      Genomic 2
      cDNA 108
      Primer pair 8
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1972, MGD-MRK-2053, MGI:1924905
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 30
      Diseases 3
      Gene Ontology 19
      Phenotypes 28
    • Earliest
      J:5198 Seegmiller R, et al., A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. J Cell Biol. 1971 Mar;48(3):580-93
    • Latest
      J:351385 Kaneko N, et al., ADAMTS2 promotes radial migration by activating TGF-beta signaling in the developing neocortex. EMBO Rep. 2024 Jul;25(7):3090-3115
    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