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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
  • Alliance
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
  • Genetic Map
    Chromosome 8, 5.53 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    COL4A1, collagen type IV alpha 1 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL4A1, collagen type IV alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BSVD, RATOR
  • Links
    NCBI Gene ID: 1282
    neXtProt AC: NX_P02462
    UniProt: P02462

  • Chr Location
    13q34; chr13:110148958-110307157 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 20437
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: COL4A1
  • Gene Tree
Human Diseases
more
  • Diseases
    4 with Col4a1 mouse models; 2 with human COL4A1 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
View 2 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    97 phenotypes from 14 alleles in 15 genetic backgrounds
    8 images
    31 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 with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.
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
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 158
    Developmental Gene Expression 72
    Diseases 4
    Gene Ontology 15
    Phenotypes 31
  • 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:242077 Mao M, et al., Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. Dis Model Mech. 2017 Apr 01;10(4):475-485

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
11/07/2017
MGI 6.11
The Jackson Laboratory