Cftr MGI Mouse Gene Detail - MGI:88388 - cystic fibrosis transmembrane conductance regulator

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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
  • 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
  • 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
    17
  • PCR
    2
  • RFLP
    8
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J no annotation
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
cystic fibrosis

DOID:1485
DOID:12447
DOID:13383
DOID:14395
DOID:1484
ICD10CM:E84
ICD9CM:277.0
MESH:D003550
NCI:C2975
OMIM:219700
ORDO:586
UMLS_CUI:C0010674

 View 19 models
Mouse Models

Human Disease Modeled: cystic fibrosis

Allelic Composition Genetic Background Reference Phenotypes
Cftrtm1Cam/Cftrtm1Cam
involves: 129S/SvEv J:2584 View
Cftrtm1Bay/Cftrtm1Bay
involves: 129S7/SvEvBrd * C57BL/6J J:15244 View
Cftrtm2Cam/Cftrtm2Cam
involves: 129S/SvEv J:27734 View
Cftrtm3Bay/Cftrtm3Bay
involves: 129S7/SvEvBrd J:29656 View
Cftrtm3Hgu/Cftrtm3Hgu
involves: 129P2/OlaHsd J:32766 View
Cftrtm2Hgu/Cftrtm2Hgu
involves: 129P2/OlaHsd * C57BL/6 J:74740 View
Cftrtm1Kth/Cftrtm1Kth
B6.129S7-Cftrtm1Kth J:112450 View
Cftrtm2Mrc/Cftrtm2Mrc
B6.129S6-Cftrtm2Mrc J:112450 View
Cftrtm3Mrc/Cftrtm3Mrc
B6.129S6-Cftrtm3Mrc J:112450 View
Cftrtm1Eur/Cftrtm1Eur
B6.129P2-Cftrtm1Eur J:189205 View
Cftrem3Cwr/Cftrem3Cwr
C57BL/6J-Cftrem3Cwr/Cwr J:262928 View
Cftrtm1.1Sdw/Cftrtm1.1Sdw
involves: C57BL/6 * C57BL/6J J:323560 View
Cftrtm1Unc/Cftrtm1Unc
B6.129P2-Cftrtm1Unc/J J:58571 J:112450 View
Cftrtm1Kth/Cftrtm1Kth
involves: 129S7/SvEvBrd * C57BL/6J J:29074 View
Cftrtm1Eur/Cftrtm1Eur
involves: 129P2/OlaHsd * FVB/N J:28979 View
Cftrtm1Hgu/Cftrtm1Hgu
involves: 129P2/OlaHsd J:24119 View
Cftrtm1Hgu/Cftrtm1Hgu
involves: 129P2/OlaHsd * MF1 J:14614 View
Cftrtm1Unc/Cftrtm1Unc
involves: 129P2/OlaHsd J:2079 View
Cftrtm1Hsc/Cftrtm1Hsc
involves: 129S1/Sv * 129X1/SvJ * CD-1 J:31759 View
IDs
alcoholic pancreatitis

DOID:4988
MESH:D019512
UMLS_CUI:C0376670
IDs
allergic bronchopulmonary aspergillosis

DOID:13166
ICD10CM:B44.81
ICD9CM:518.6
MESH:D001229
NCI:C84547
OMIM:103920
UMLS_CUI:C0004031
IDs
asthma

DOID:2841
DOID:12703
DOID:13829
DOID:13830
DOID:2840
DOID:5783
ICD10CM:J45
ICD9CM:493
ICD9CM:493.9
KEGG:05310
MESH:D001249
NCI:C28397
OMIM:600807
UMLS_CUI:C0004096
IDs
autosomal recessive congenital bilateral absence of vas deferens
IDs
bronchiectasis

DOID:9563
DOID:11046
DOID:11047
DOID:9571
ICD10CM:J47
ICD9CM:494
MESH:D001987
NCI:C84475
OMIM:211400
OMIM:613021
OMIM:613071
OMIM:PS211400
ORDO:60033
UMLS_CUI:C0006267
IDs
bronchiectasis 1
IDs
chronic obstructive pulmonary disease

DOID:3083
DOID:11500
DOID:6144
EFO:0000341
ICD10CM:J44.9
MESH:D029424
NCI:C3199
OMIM:606963
UMLS_CUI:C0024117
IDs
congenital bilateral absence of vas deferens
IDs
exocrine pancreatic insufficiency

DOID:13316
ICD10CM:K86.81
MESH:D010188
NCI:C84316
UMLS_CUI:C0267963
IDs
lung cancer

DOID:1324
DOID:13075
DOID:1322
DOID:9881
ICD10CM:C34.1
ICD10CM:C34.2
ICD10CM:C34.3
ICD9CM:162.3
ICD9CM:162.4
ICD9CM:162.5
ICD9CM:162.8
OMIM:211980
OMIM:608935
OMIM:612571
OMIM:612593
OMIM:614210
UMLS_CUI:C0024624
UMLS_CUI:C0153491
UMLS_CUI:C0153492
UMLS_CUI:C0153493
IDs
lung disease

DOID:850
DOID:11894
DOID:11895
DOID:29
DOID:766
ICD10CM:J98.4
MESH:D008171
NCI:C3198
UMLS_CUI:C0024115
IDs
pancreatic cancer

DOID:1793
DOID:14356
DOID:1797
DOID:3588
DOID:9859
ICD10CM:C25.0
ICD10CM:C25.1
ICD10CM:C25.2
ICD9CM:157.0
ICD9CM:157.1
ICD9CM:157.2
ICD9CM:157.8
KEGG:05212
MESH:D010190
NCI:C3305
ORDO:1333
ORDO:217074
UMLS_CUI:C0030297
UMLS_CUI:C0153458
UMLS_CUI:C0153459
UMLS_CUI:C0153460
UMLS_CUI:C0153463
IDs
primary sclerosing cholangitis

DOID:0060643
ICD10CM:K83.01
MESH:D015209
NCI:C4828
OMIM:613806
ORDO:171
UMLS_CUI:C0566602
IDs
pulmonary sarcoidosis

DOID:13406
ICD10CM:D86.0
MESH:D017565
NCI:C34997
UMLS_CUI:C0036205
IDs
sinusitis

DOID:0050127
DOID:2052
DOID:9564
ICD10CM:J01
ICD9CM:461
ICD9CM:461.9
NCI:C128411
UMLS_CUI:C0149512
IDs
typhoid fever

DOID:13258
DOID:3054
ICD10CM:A01.0
ICD9CM:002.0
MESH:D014435
NCI:C35089
UMLS_CUI:C0041466
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
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  • Phenotype Summary
    118 phenotypes from 17 alleles in 28 genetic backgrounds
    33 phenotypes from multigenic genotypes
    2 images
    468 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
  • 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 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
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Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    • 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 18
      Phenotypes 468
    • 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:361422 Schaefer KR, et al., Efficacy of melatonin treatment in a cystic fibrosis mouse model of airway infection. Sci Rep. 2025 Jan 13;15(1):1849
    TSS for Cftr:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr55104 Chr6:18170559-18170619 (+) -97 bp
    Tssr55105 Chr6:18170741-18170755 (+) 62 bp
    Tssr55106 Chr6:18170757-18170779 (+) 82 bp
    Tssr55107 Chr6:18170781-18170797 (+) 103 bp
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support. last database update
    12/17/2024
    MGI 6.24 The Jackson Laboratory
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