Primary Identifier | MGI:5912453 | Allele Type | Targeted |
Attribute String | Dominant negative, Humanized sequence | Gene | Pde6a |
Transmission | Germline | Strain of Origin | C57BL/6 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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). |