About   Help   FAQ
Cftr
Gene Detail
Symbol

Name
ID
Cftr
cystic fibrosis transmembrane conductance regulator
MGI:88388
STS
Synonyms
Abcc7
Feature Type
protein coding gene
Genetic Map
Chromosome 6
8.10 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr6:18170687-18322768 bp, + strand
From VEGA annotation of GRCm38

  152082 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55465  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CFTR
Gene Tree: Cftr

Human
homologs
CFTR, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1080
neXtProt AC: NX_P13569

Human Synonyms: ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR

Human Chr (Location): 7q31.2; chr7:117478340-117668665 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human CFTR

Mutations,
alleles, and
phenotypes
All mutations/alleles(24) : Gene trapped(2) Targeted(20) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Cftr (1)    Mutations Annotated to Human Diseases (13)    Phenotype Images(2)
Interactions
Cftr interacts with 449 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (12 records)
Data Summary: Results (193)    Tissues (145)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 96
RT-PCR 95
cDNA source data(39)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cftr ; ZFIN cftr    NEW 
Molecular
reagents
All nucleic(53) Genomic(8) cDNA(40) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000024173 (Evidence)
Ensembl Gene Model ENSMUSG00000041301 (Evidence)
Entrez Gene 12638 (Evidence)
UniGene 15621
DFCI TC1586585, TC1661251
DoTS DT.485461, DT.91336199
NIA Mouse Gene Index U006570
EC 3.6.3.49
PDB 1Q3H, 1R0W, 1R0X, 1R0Y, 1R0Z, 1R10, 1XF9, 1XFA, 3SI7
Consensus CDS Project CCDS19930.1
International Mouse Phenotyping Consortium Status Cftr
Sequences
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 sequences
All sequences(61) RefSeq(10) UniProt(5)
Polymorphisms
All PCR and RFLP(10) : PCR(2) RFLP(8) SNPs within 2kb(1365 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR011527 ABC transporter type 1, transmembrane domain
InterPro IPR025837 CFTR regulator domain
InterPro IPR009147 Cystic fibrosis transmembrane conductance regulator
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000001044 cystic fibrosis transmembrane conductance regulator
References
(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:220555 Liu J, et al., Defective goblet cell exocytosis contributes to murine cystic fibrosis-associated intestinal disease. J Clin Invest. 2015 Mar 2;125(3):1056-68
All references(365)
Disease annotation references (24)
Other
accession IDs
MGD-MRK-1961, MGI:2141688

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory