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Allele : Pde6b<rd20> phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide; retinal degeneration 20

Primary Identifier  MGI:5906332 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Pde6b
Inheritance Mode  Recessive Strain of Origin  Kunming
Is Recombinase  false Is Wild Type  false
description  Mutation was discovered in the Kunming mouse strain and subsequently back-crossed into B6J.
molecularNote  A nonsense mutation in exon 7 (c.1041C>A) changes codon 347 from a tyrosine codon to a stop codon (p.Tyr347Ter). Through qRT-PCR it was determined that transcription from this allele is severely reduced to less than 0.1% of wild-type. Translation products were undetectable through Western blots.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele