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Col7a1 Gene Detail
Summary
  • Symbol
    Col7a1
  • Name
    collagen, type VII, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88462
    NCBI Gene: 12836
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:108953586-108984875 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 59.63 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    134 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88462
protein coding gene Chr9:108953575-108984876 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035318
protein coding gene Chr9:110899024-110930326 (+)
A/J MGP_AJ_G0035297
protein coding gene Chr9:106833431-106864707 (+)
AKR/J MGP_AKRJ_G0035229
protein coding gene Chr9:109513341-109544661 (+)
BALB/cJ MGP_BALBcJ_G0035291
protein coding gene Chr9:106528926-106560205 (+)
C3H/HeJ MGP_C3HHeJ_G0035001
protein coding gene Chr9:109911528-109942803 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035811
protein coding gene Chr9:113933492-113964807 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032709
protein coding gene Chr9:104238268-104269869 (+)
CAST/EiJ MGP_CASTEiJ_G0034312
protein coding gene Chr9:109879789-109916412 (+)
CBA/J MGP_CBAJ_G0034969
protein coding gene Chr9:117945257-117976551 (+)
DBA/2J MGP_DBA2J_G0035130
protein coding gene Chr9:106283754-106315334 (+)
FVB/NJ MGP_FVBNJ_G0035078
protein coding gene Chr9:105103378-105134651 (+)
LP/J MGP_LPJ_G0035206
protein coding gene Chr9:111089036-111122572 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035117
protein coding gene Chr9:119499936-119531327 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035832
protein coding gene Chr9:109786133-109818524 (+)
PWK/PhJ MGP_PWKPhJ_G0034019
protein coding gene Chr9:106620131-106651554 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033854
protein coding gene Chr9:109854663-109889091 (+)
WSB/EiJ MGP_WSBEiJ_G0034433
protein coding gene Chr9:109683979-109715276 (+)



Homology
more
  • Human Ortholog
    COL7A1, collagen type VII alpha 1 chain
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COL7A1, collagen type VII alpha 1 chain
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EBD1, EBDCT, EBR1, NDNC8
  • Links
    NCBI Gene ID: 1294
    neXtProt AC: NX_Q02388
    UniProt: Q02388

  • Chr Location
    3p21.31; chr3:48564073-48595302 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col7a1 mouse models; 3 with human COL7A1 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    6 images
    22 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025650 Ensembl Gene Model | MGI Sequence Detail 31290 C57BL/6J ±  kb
    transcript ENSMUST00000112070 Ensembl | MGI Sequence Detail 9250 Not Applicable  
    polypeptide ENSMUSP00000107701 Ensembl | MGI Sequence Detail 2944 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 5
      cDNA 33

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2079, MGI:2143296
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 10
      Diseases 3
      Gene Ontology 9
      Phenotypes 22
    • Earliest
      J:12785 Li K, et al., cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene. Genomics. 1993 Jun;16(3):733-9
    • Latest
      J:260724 Nystrom A, et al., Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E705-E714

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory