Pcdh15^m5Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pcdh15^m5Btlr
• Name: protocadherin 15; mutation 5, Bruce Beutler
• MGI ID: MGI:6114106
• Synonyms: tortilla
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^m5Btlr 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 G to T transversion at base pair 74,379,417 (v38) on chromosome 10, or base pair 1,280,076 in the GenBank genomic region NC_000076 within the donor splice site of intron 15 (ENSMUST00000195531.5). 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 80-nucleotide exon 15 (out of 35 total exons), resulting in an in-frame deletion of amino acids 640-666 of the protein. (J:255213)
• 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 Pcdh15 Mutation: 135 strains or lines available

References

• Original: J:255213 Prince L, et al., Mutagenetix entry for tortilla. MGI Direct Data Submission. 2018
• All: 1 reference(s)