Pde6d^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pde6d^m1Btlr
• Name: phosphodiesterase 6D, cGMP-specific, rod, delta; mutation 1, Bruce Beutler
• MGI ID: MGI:6198326
• Synonyms: costume
• Gene: Pde6d Location: Chr1:86470735-86510260 bp, - strand Genetic Position: Chr1, 43.96 cM
• Alliance: Pde6d^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced A to G transition at base pair 86,547,526 (v38) on chromosome 1, or base pair 35,283 in the GenBank genomic region NC_000067 encoding Pde6d. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 89-nucleotide exon 2 (out of 5 total exons), resulting in a frame-shifted protein product beginning after amino acid 17 and coding of a premature stop codon at amino after 53 aberrant amino acids (at amino acid 70). (J:264678)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Pde6d Mutation: 19 strains or lines available

References

• Original: J:264678 Chen Z, et al., Mutagenetix entry for costume. MGI Direct Data Submission. 2018
• All: 1 reference(s)