Pde6b^rd1
Spontaneous Allele Detail

Summary

• Symbol: Pde6b^rd1
• Name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide; retinal degeneration 1
• MGI ID: MGI:1856373
• Synonyms: Pdeb^rd1, rd, rd-1, rd1, rodless retina
• Gene: Pde6b Location: Chr5:108536239-108579609 bp, + strand Genetic Position: Chr5, 53.07 cM
• Alliance: Pde6b^rd1 page

Retinal degeneration in Pde6b^rd1/Pde6b^rd1, and Pde6b^rd1/Pde6b^rd1 Cry1^tm1Asn/Cry1^tm1Asn Cry2^tm1Asn/Cry2^tm1Asn mouse retinas

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous
• Mutations: Single point mutation, Viral insertion
• Mutation details: Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. (J:4366, J:11513, J:51361)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	3 assay results 6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 41 strains available Cell Lines: 0 lines available
• Carrying any Pde6b Mutation: 122 strains or lines available

Notes

The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.

References

• Original: J:24999 Keeler CE, The inheritance of a retinal abnormality in white mice. Proc Natl Acad Sci U S A. 1924 Jul;10(7):329-33
• All: 441 reference(s)