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Allele : Cftr<tm2Cam> cystic fibrosis transmembrane conductance regulator; targeted mutation 2, University of Cambridge

Primary Identifier  MGI:1857896 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Cftr
Transmission  Germline Strain of Origin  129S/SvEv-Gpi1<c>
Is Recombinase  false Is Wild Type  false
molecularNote  A three base pair deletion results in the deletion of phenylalanine codon 508 (p.F508del). An HPRT minigene was also inserted into intron 11 in reverse transcriptional orientation relative to the gene. A mutant transcript is expressed and is identified in salivary glands, lungs, pancreas, kidney and small intestine at approximately 15% of the wild-type level, except in the salivary glands at 3%. The deletion mimics the deltaF508 mutation found in human cystic fibrosis patients.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • p.F508del,
  • deltaF508<->,
  • p.F508del,
  • c.1522_1524del,
  • c.1522_1524del,
  • deltaF508<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

12 Publication categories

Trail: Allele