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Allele : Cftr<tm2Hgu> cystic fibrosis transmembrane conductance regulator; targeted mutation 2, MRC Human Genetics Unit

Primary Identifier  MGI:2177539 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Cftr
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  A "Hit and Run" type strategy was used to create a mutation in exon 11 (c.GGGA>ATGC) that changes codon 480 from glycine to cysteine (p.G480C) and at the same time creates a diagnostic NsiI restriction enzyme site overlapping the cysteine codon.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • G480C,
  • p.G480C,
  • p.G480C,
  • G480C
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

6 Publication categories