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Cftr Gene Detail
Summary
  • Symbol
    Cftr
  • Name
    cystic fibrosis transmembrane conductance regulator
  • Synonyms
    Abcc7
  • Feature Type
    protein coding gene
  • IDs
    MGI:88388
    NCBI Gene: 12638
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:18170687-18322768 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      152082 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 8.10 cM, cytoband A3
  • Mapping Data
    11 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    CFTR, cystic fibrosis transmembrane conductance regulator
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CFTR, cystic fibrosis transmembrane conductance regulator
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR
  • Links
    NCBI Gene ID: 1080
    neXtProt AC: NX_P13569
    UniProt: P13569

  • Chr Location
    7q31.2; chr7:117478367-117668665 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 55465
    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: CFTR
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Cftr mouse models; 3 with human CFTR associations

Human Disease Mouse Models
      
IDs
View 18 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    14 with disease annotations
  • References
    16 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    123 phenotypes from 17 alleles in 27 genetic backgrounds
    14 phenotypes from multigenic genotypes
    2 images
    315 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.
Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport.
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 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 OTTMUSG00000024173 VEGA Gene Model | MGI Sequence Detail 152082 C57BL/6J ±  kb
    transcript OTTMUST00000059141 VEGA | MGI Sequence Detail 6303 Not Applicable  
    polypeptide OTTMUSP00000028741 VEGA | MGI Sequence Detail 1476 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1352 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      Genomic 8
      cDNA 42
      Primer pair 6
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1961, MGI:2141688
    References
    more
    • Summaries
      All 440
      Developmental Gene Expression 13
      Diseases 16
      Gene Ontology 13
      Phenotypes 315
    • Earliest
      J:23450 TENNANT JR, SUSCEPTIBILITY AND RESISTANCE TO VIRAL LEUKEMOGENESIS IN THE MOUSE. I. BIOLOGIC DEFINITION OF THE VIRUS. J Natl Cancer Inst. 1965 May;34:625-32
    • Latest
      J:265314 Portal C, et al., Long-term dietary (n-3) polyunsaturated fatty acids show benefits to the lungs of Cftr F508del mice. PLoS One. 2018;13(6):e0197808

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory