Pcdh15^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pcdh15^m3Btlr
• Name: protocadherin 15; mutation 3, Bruce Beutler
• MGI ID: MGI:5527537
• Synonyms: mcduck
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^m3Btlr 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: ENU mutagenesis induced a T to A transversion at base pair 74,626,844 on chromosome 10, corresponding to base pair 1,526,630 in GenBank genomic region NC_000076. The mutation is located in the donor splice site of intron 33, two nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in the skipping of the 156 base pair exon 33 and splicing from exon 32 to exon 34. The aberrant splicing would lead to a deletion of 52 amino acids as well as a frameshift and subsequent coding of a premature stop codon at amino acid 1506.
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pcdh15 Mutation: 135 strains or lines available

References

• Original: J:203622 Daniel C, et al., Direct data submission for mcduck. MGI Direct Data Submission. 2014
• All: 1 reference(s)