Agtpbp1^pcd-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Agtpbp1^pcd-Btlr
• Name: ATP/GTP binding protein 1; Purkinje cell degeneration Bruce Beutler
• MGI ID: MGI:3774134
• Synonyms: Agtpbp1^m1Btlr, drunk
• Gene: Agtpbp1 Location: Chr13:59597348-59705184 bp, - strand
• Alliance: Agtpbp1^pcd-Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The drunk mutation corresponds to a T-to-A transversion in the donor splice site of intron 11 (GT -> GA; nucleotide position 44998 in Genbank genomic region NC_000079). Sequence analysis of cDNA from drunk mice demonstrates that the mutation results in skipping of exon 11, shifting the reading frame after codon 303 (encoding glutamine) and leading to a premature termination codon that is predicted to truncate the protein after amino acid 318. (J:133627)
• 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 Agtpbp1 Mutation: 66 strains or lines available

References

• Original: J:133627 Viviani P, et al., Drunk is an allele of Agtpbp1 causing Purkinje cell and retinal degeneration and male sterility. MGI Direct Data Submission. 2008
• All: 1 reference(s)