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. |