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. (J:27734)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv-Gpi1c
Targeted
Insertion, Intragenic deletion
--
1
12
9

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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