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A loxP site flanked neomycin resistance gene cassette was inserted into intron 12. A c.1684C>T substitution in arginine codon 562 in exon 13 changed that codon to a tryptophan codon (p.Arg562Trp or p.R562W). This mutation is found in retinitis pigmentosa (RP) patients. The neo cassette was removed through subsequent cre-mediated recombination. RT-PCR experiments showed that in the retina around half of the transcripts expressed from this allele skip exon 13 (p.541_576del). (J:242803)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
