Tmprss6^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tmprss6^m3Btlr
• Name: transmembrane serine protease 6; mutation 3, Bruce Beutler
• MGI ID: MGI:3829007
• Synonyms: masquerade
• Gene: Tmprss6 Location: Chr15:78323867-78352834 bp, - strand Genetic Position: Chr15, 37.49 cM, cytoband E2
• Alliance: Tmprss6^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: The masquerade phenotype was discovered among G3 progeny of an ENU mutagenized male mouse. The mutation comprises a G to A transition at nucleotide position 2557 (Genbank: NM_027902), in the last of the gene's 18 exons, that results in substitution of a termination codon for one encoding tryptophan at amino acid position 783 (W783Ter). This truncates the protein by 29 amino acids at its C terminus, near the end of its serine protease domain and outside of the catalytic site. (J:143779)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:143779 Blasius AL, et al., Record for "masquerade", updated 21st of January, 2009. MGI Direct Data Submission. 2009
• All: 1 reference(s)