The allele contains a 3 bp deletion in exon 11 resulting in the loss of phenylalanine codon 508 (p.F508del). This deletion mimics the deltaF508 mutation found in human cystic fibrosis patients. A neomycin selection cassette was also inserted in intron 11 in reverse transcriptional orientation to the gene. In salivary glands transcription levels from the allele are comparable to wild-type, but no protein was detected. Protein was detected in testes but it was mislocalized. Transcription levels in intestine were greatly reduced. (J:29074)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd
Targeted
Intragenic deletion
--
1
12
81

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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