Tmprss6^m4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tmprss6^m4Btlr
• Name: transmembrane serine protease 6; mutation 4, Bruce Beutler
• MGI ID: MGI:5789551
• Synonyms: cubone
• Gene: Tmprss6 Location: Chr15:78323867-78352834 bp, - strand Genetic Position: Chr15, 37.49 cM, cytoband E2
• Alliance: Tmprss6^m4Btlr 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 T to A transversion at base pair 78,446,657 (v38) on chromosome 15, or base pair in the GenBank genomic region NC_000081. The mutation is within intron 11, 6-base pairs from the previous exon (exon 11 out of 18 total exons). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the loss of the splice donor site in intron 11 with a concomitant use of a cryptic splice site in intron 11, leading to a 16-base pair insertion. The insertion would result in an in-frame protein product after amino acid 456 of the protein, followed by termination after the inclusion of 811 aberrant amino acids. (J:234243)
• 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 Tmprss6 Mutation: 46 strains or lines available

References

• Original: J:234243 Reyna C, et al., Mutagenetix entry for cubone. MGI Direct Data Submission. 2016
• All: 1 reference(s)