Pde6b^rd20
Spontaneous Allele Detail

Summary

• Symbol: Pde6b^rd20
• Name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide; retinal degeneration 20
• MGI ID: MGI:5906332
• Gene: Pde6b Location: Chr5:108536239-108579609 bp, + strand Genetic Position: Chr5, 53.07 cM
• Alliance: Pde6b^rd20 page

Mutation origin

• Strain of Origin: Kunming

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:241028)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pde6b Mutation: 122 strains or lines available

Notes

Mutation was discovered in the Kunming mouse strain and subsequently back-crossed into B6J.

References

• Original: J:241028 Yan W, et al., A kind of rd1 mouse in C57BL/6J mice from crossing with a mutated Kunming mouse. Gene. 2017 Apr 05;607:9-15
• All: 2 reference(s)