Pcdh15^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pcdh15^m2Btlr
• Name: protocadherin 15; mutation 2, Bruce Beutler
• MGI ID: MGI:5497993
• Synonyms: spaz
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^m2Btlr 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: Sequencing of the mutated gene identified an A to T transversion at base pair 74210425 (v38) on Chromosome 10 in the GenBank genomic region NC_000076 encoding Pcdh15. The mutation corresponds to residue 953 in the ENSMUST00000105426 mRNA sequence within exon 7 of 35 total exons. The mutation results in an aspartic acid (D) to valine (V) substitution at residue 183. (J:198553)
• 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

Notes

Whole exome HiSeq sequencing of the G1 grandsire identified 78 mutations.

References

• Original: J:198553 Beutler B, Direct data submission for a Pcdh15 allele. MGI Direct Data Submission. 2013
• All: 1 reference(s)