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Cftr
Gene Detail
 Symbol
Name
ID
Cftr
cystic fibrosis transmembrane conductance regulator
MGI:88388
STS D6Mit236
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 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Cftr

Human
homologs
Human Homolog CFTR, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
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; chr7:117470772-117668665 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human CFTR
Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Gene trapped(2) Targeted(20)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Cftr (1)    Alleles Annotated to Human Diseases(13)    Phenotype Images(2)
Interactions
Cftr interacts with 449 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (61 annotations)
Process bicarbonate transport, cellular response to cAMP, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (193)    Tissues (145)    Images (4)
Theiler Stages: 15, 18, 19, 22, 23, 25, 27, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 96
RT-PCR 95
cDNA source data(39)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(53) Genomic(8) cDNA(40) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000024173 (Evidence)
Ensembl Gene ModelENSMUSG00000041301 (Evidence)
Entrez Gene12638 (Evidence)
UniGene15621
DFCITC1586585, TC1661251
DoTSDT.485461, DT.91336199
NIA Mouse Gene IndexU006570
EC3.6.3.49
PDB1Q3H, 1R0W, 1R0X, 1R0Y, 1R0Z, 1XFA, 1R10, 1XF9, 3SI7
Consensus CDS ProjectCCDS19930.1
International Mouse Knockout Project StatusCftr
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 IPR001140 ABC transporter, transmembrane domain
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR025837 CFTR regulator domain
InterPro IPR005291 Cyclic AMP-dependent chloride channel
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:210560 Hunt WR, et al., Hyperglycemia impedes lung bacterial clearance in a murine model of cystic fibrosis-related diabetes. Am J Physiol Lung Cell Mol Physiol. 2014 Jan 1;306(1):L43-9
All references(356)
Disease annotation references (18)
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
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory