Ptprc^m12Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ptprc^m12Btlr
• Name: protein tyrosine phosphatase receptor type C; mutation 12, Bruce Beutler
• MGI ID: MGI:6305858
• Synonyms: crystal
• Gene: Ptprc Location: Chr1:137990599-138103446 bp, - strand Genetic Position: Chr1, 60.73 cM
• Alliance: Ptprc^m12Btlr 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: T to A transversion at base pair 138,072,255 (v38) on chromosome 1, or base pair X in the GenBank genomic regionNC_000067within the donor splice site of intron 28 (2-base pairs from exon 28 out of 33 total exons).The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 28. The resulting transcript has a 4-base pair insertion of intron 28, which would cause a frame-shifted protein product beginning after amino acid 1,013 of the protein (the protein is normally 1,293 amino acids long) and termination after in the inclusion of two aberrant amino acids. (J:274972)
• 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 Ptprc Mutation: 189 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4415

References

• Original: J:274972 Choi JH, et al., Mutagenetix entry for crystal. MGI Direct Data Submission. 2019
• All: 1 reference(s)