A targeting vector containing an FRT flanked neomycin cassette was used to insert an in-frame UGA stop codon in place of the codon (AGA) for arginine (R168X) at position 502 in exon 4. R168X is the most common nonsense mutation associated with Rhett syndrome. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:285039)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Nucleotide substitutions
--
1
15
1

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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