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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
    gene page
  • Transcription Start Sites
    7 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
    18
  • 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 MGP_129S1SvImJ_G0030475
 protein coding gene Chr6:15452013-15609518 (+)
A/J MGP_AJ_G0030448
 protein coding gene Chr6:14819073-14968382 (+)
AKR/J MGP_AKRJ_G0030375
 protein coding gene Chr6:15341101-15497048 (+)
BALB/cJ MGP_BALBcJ_G0030457
 protein coding gene Chr6:14911676-15065171 (+)
C3H/HeJ MGP_C3HHeJ_G0030171
 protein coding gene Chr6:15211060-15370249 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030912
 protein coding gene Chr6:15942838-16105453 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028123
 protein coding gene Chr6:13760481-13905756 (+)
CAST/EiJ MGP_CASTEiJ_G0029573
 protein coding gene Chr6:15117232-15286184 (+)
CBA/J MGP_CBAJ_G0030149
 protein coding gene Chr6:16462616-16641957 (+)
DBA/2J MGP_DBA2J_G0030293
 protein coding gene Chr6:14744790-14898688 (+)
FVB/NJ MGP_FVBNJ_G0030247
 protein coding gene Chr6:14581549-14737065 (+)
LP/J MGP_LPJ_G0030380
 protein coding gene Chr6:15556690-15711572 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030283
 protein coding gene Chr6:17607111-17806730 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030942
 protein coding gene Chr6:15221790-15384181 (+)
PWK/PhJ MGP_PWKPhJ_G0029287
 protein coding gene Chr6:14418987-14574089 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029123
 protein coding gene Chr6:15103553-15266197 (+)
WSB/EiJ MGP_WSBEiJ_G0029649
 protein coding gene Chr6:15158001-15319872 (+)



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
    neXtProt AC: NX_P13569
    UniProt: P13569

  • Chr Location
    7q31.2; chr7:117287120-117715971 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cftr mouse models; 17 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
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
    466 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
    119
  • GO References
    20
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
    945
  • Tissues
    156
  • cDNA Data
    42
  • Literature Summary
    18
  • 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

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1961, MGI:2141688
    References
    more
    • Summaries
      All 597
      Developmental Gene Expression 18
      Diseases 17
      Gene Ontology 20
      Phenotypes 466
    • 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:359282 Michicich M, et al., A W1282X cystic fibrosis mouse allows the study of pharmacological and gene-editing therapeutics to restore CFTR function. J Cyst Fibros. 2024 Nov 11;
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory