Tmprss3^m1Ingm
Chemically induced Allele Detail

Summary

• Symbol: Tmprss3^m1Ingm
• Name: transmembrane protease, serine 3; mutation 1, Ingenium Pharmaceuticals
• MGI ID: MGI:5009322
• Synonyms: Tmprss3^Y260X
• Gene: Tmprss3 Location: Chr17:31398239-31417951 bp, - strand Genetic Position: Chr17, 15.8 cM
• Alliance: Tmprss3^m1Ingm page

Degeneration of hair cells in Tmprss3^m1Ingm/Tmprss3^m1Ingm mice at the onset of hearing

Show the 6 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A transversion in exon 7 (780 bp from the start codon, NM_024022.2) that results in the amino acid substitution of a stop codon for tyrosine at posistion 260 (Y260X). The predicted truncated protein lacks most of the protease domain. (J:172676)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

7 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 Tmprss3 Mutation: 22 strains or lines available

References

• Original: J:172676 Fasquelle L, et al., Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing. J Biol Chem. 2011 May 13;286(19):17383-97
• All: 2 reference(s)