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Allele : Pde6a<tm1.1Bewi> phosphodiesterase 6A, cGMP-specific, rod, alpha; targeted mutation 1.1, Bernd Wissinger

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).
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • R562W,
  • R562W
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

5 Publication categories

Trail: Allele