Tmprss6^msk
Chemically induced Allele Detail

Summary

• Symbol: Tmprss6^msk
• Name: transmembrane serine protease 6; mask
• MGI ID: MGI:3776631
• Synonyms: Tmprss6^m1Btlr
• Gene: Tmprss6 Location: Chr15:78323867-78352834 bp, - strand Genetic Position: Chr15, 37.49 cM, cytoband E2
• Alliance: Tmprss6^msk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is an A-to-G transition in the acceptor splice site of intron 14 (TATCAG->TATCGG) (position 24788 in Genbank genomic region NC_000081). cDNA sequencing detects no normal mature transcripts in homozygous mutant mice, but instead reveals two aberrant splice products. One, resulting from use of a cryptic acceptor splice site in exon 15, is missing 14 nucleotides from the 5' end of exon 15. The second abnormal splice product, generated using the acceptor splice site of intron 15, entirely lacks exon 15; its reading frame is shifted after codon 566, leading to a premature termination codon following codon 594. (J:134446)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Tmprss6 Mutation: 46 strains or lines available

Notes

Of four mice homozygous for this mutation and transgenic for a BAC containing a 197-kb genomic DNA fragment including the coding region of the Tmprss6 gene plus 5' and 3' flanking DNA, all four were rescued for the hair-loss phenotype and three of the four for the iron deficiency and anemia.

References

• Original: J:134446 Du X, et al., The serine protease TMPRSS6 is required to sense iron deficiency. Science. 2008 May 23;320(5879):1088-92
• All: 9 reference(s)