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Col4a1 Gene Detail
Summary
  • Symbol
    Col4a1
  • Name
    collagen, type IV, alpha 1
  • Synonyms
    alpha1(IV) collagen, Bru, Col4a-1, Del(8)44H, Del(8)Bru44H, Raw, Svc
  • Feature Type
    protein coding gene
  • IDs
    MGI:88454
    NCBI Gene: 12826
Location & Maps
more
  • Sequence Map
    Chr8:11198423-11312826 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      114404 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COL4A1, collagen type IV alpha 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL4A1, collagen type IV alpha 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BSVD, RATOR
  • Links
    NCBI Gene ID: 1282
    neXtProt AC: NX_P02462

  • Chr Location
    13q34; chr13:110148958-110307157 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Col4a1 mouse models; 5 with human COL4A1 associations

Human Disease Mouse Models
       Brain Small Vessel Disease with or without Ocular Anomalies; BSVD   OMIM: 607595 View 1 model
Porencephaly 1; POREN1   OMIM: 175780 View 1 model
       Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1   OMIM: 236670 View 1 model
       Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps;   OMIM: 611773
Hemorrhage, Intracerebral, Susceptibility To; ICH   OMIM: 614519
Retinal Arteries, Tortuosity Of; RATOR   OMIM: 180000
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
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  • Phenotype Summary
    62 phenotypes from 13 alleles in 14 genetic backgrounds
    24 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
    22
  • Chemically induced (ENU)
    9
  • Chemically induced (other)
    2
  • Gene trapped
    5
  • Radiation induced
    2
  • Targeted
    4
  • Genomic Mutations
    1 involving Col4a1
  • Incidental Mutations
Mice with ENU induced mutations of this gene display various eye and vision defects. Newborn mutants may also exhibit bruises.
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 OTTMUSG00000021316 VEGA Gene Model | MGI Sequence Detail 114404 C57BL/6J ±  kb
transcript OTTMUST00000050536 VEGA | MGI Sequence Detail 6615 Not Applicable  
polypeptide OTTMUSP00000023605 VEGA | MGI Sequence Detail 1669 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1060 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000005713 collagen alpha-1(IV) chain
  • InterPro Domains
    IPR001442 Collagen IV, non-collagenous
    IPR008160 Collagen triple helix repeat
    IPR016187 C-type lectin fold
Molecular
Reagents
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  • All nucleic 616
    Genomic 9
    cDNA 596
    Primer pair 6
    Other 5

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-1671, MGD-MRK-2066, MGD-MRK-2068, MGI:1890530, MGI:1890533, MGI:88206
References
more
  • Summaries
    All 140
    Developmental Gene Expression 60
    Diseases 3
    Gene Ontology 13
    Phenotypes 24
  • Earliest
    J:15727 Kurkinen M, et al., Isolation of cDNA clones for basal lamina components: type IV procollagen. Nucleic Acids Res. 1983 Sep 24;11(18):6199-209
  • Latest
    J:229443 Jones FE, et al., ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice. Dis Model Mech. 2016 Feb 1;9(2):165-76

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory