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Cftr Gene Detail
Summary
  • Symbol
    Cftr
  • Name
    CF transmembrane conductance regulator
  • Synonyms
    Abcc7
  • Feature Type
    protein coding gene
  • IDs
    MGI:88388
    NCBI Gene: 12638
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:18170686-18322767 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 8.10 cM, cytoband A3
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4256 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    2
  • RFLP
    8
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88388
 protein coding gene Chr6:18170686-18322769 (+)
129S1/SvImJ ENSMUSG00200019549
 protein coding gene Chr6:15232132-15381456 (+)
A/J ENSMUSG00195013022
 protein coding gene Chr6:15176546-15329057 (+)
AKR/J ENSMUSG00220000980
 protein coding gene Chr6:14750421-14902959 (+)
BALB/cJ ENSMUSG00180001297
 protein coding gene Chr6:15321877-15474398 (+)
C3H/HeJ ENSMUSG00175015927
 protein coding gene Chr6:15107967-15260526 (+)
C57BL/6NJ ENSMUSG00215010129
 protein coding gene Chr6:15225094-15377173 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028123
 protein coding gene Chr6:13760481-13905756 (+)
CAST/EiJ ENSTCUG00005021153
 protein coding gene Chr6:14945219-15096414 (+)
CBA/J ENSMUSG00210006137
 protein coding gene Chr6:15141040-15293576 (+)
DBA/2J ENSMUSG00185025786
 protein coding gene Chr6:15267615-15420042 (+)
FVB/NJ ENSMUSG00205007111
 protein coding gene Chr6:15185799-15338342 (+)
JF1/MsJ ENSUMUG00000000672
 protein coding gene Chr6:15050160-15199523 (+)
LP/J ENSMUSG00230002782
 protein coding gene Chr6:16202645-16403918 (+)
NOD/ShiLtJ ENSMUSG00190009603
 protein coding gene Chr6:15011412-15160757 (+)
NZO/HlLtJ ENSMUSG00225005485
 protein coding gene Chr6:18146502-18299013 (+)
PWK/PhJ ENSLUMG00010019487
 protein coding gene Chr6:14752539-14910176 (+)
SPRET/EiJ ENSMSPG00010014075
 protein coding gene Chr6:15048555-15218248 (+)
WSB/EiJ ENSIUOG00005003483
 protein coding gene Chr6:15232654-15385617 (+)



Homology
more
  • Human Ortholog
    CFTR, CF transmembrane conductance regulator
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFTR, CF transmembrane conductance regulator
  • Synonyms
    ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR
  • Links
    NCBI Gene ID: 1080
    UniProt: P13569

  • Chr Location
    7q31.2; chr7:117287120-117715971 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cftr mouse models; 19 with human CFTR associations

Human Disease Mouse Models
      
IDs
 View 19 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    15 with disease annotations
  • References
    17 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    118 phenotypes from 17 alleles in 28 genetic backgrounds
    33 phenotypes from multigenic genotypes
    2 images
    482 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.
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
less
  • All GO Annotations
    145
  • GO References
    21
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
    836
  • Tissues
    156
  • cDNA Data
    42
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041301 Ensembl Gene Model | MGI Sequence Detail 152082 C57BL/6J ±  kb
    transcript ENSMUST00000045706 Ensembl | MGI Sequence Detail 6303 Not Applicable  
    polypeptide ENSMUSP00000049228 Ensembl | MGI Sequence Detail 1476 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 8
      cDNA 43
      Primer pair 6
      Other 1
      Antibodies 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1961, MGI:2141688
    References
    more
    • Summaries
      All 633
      Developmental Gene Expression 19
      Diseases 17
      Gene Ontology 21
      Phenotypes 482
    • 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:390375 Villanueva S, et al., The spatiotemporal distribution of Foxi1-expressing pulmonary ionocytes in the mouse airways. Am J Physiol Cell Physiol. 2026 Aug 1;331(2):C281-C292
    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)
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory