Tomt^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tomt^m1Btlr
• Name: transmembrane O-methyltransferase; mutation 1, Bruce Beutler
• MGI ID: MGI:3800574
• Synonyms: add
• Gene: Tomt Location: Chr7:101549010-101555572 bp, - strand Genetic Position: Chr7, 54.68 cM
• Alliance: Tomt^m1Btlr 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: Mice with the mutant phenotype were discovered among G3 progeny of an ENU-mutagenized male mouse. The mutation was mapped to Chromosome 7 and identified as a G-to-T transversion in the second of the 4 exons of this gene, resulting in substitution of arginine for leucine at position 48 of the 258-amino acid protein. (J:86521, J:137493)
• Inheritance: Recessive

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Tomt Mutation: 14 strains or lines available

Notes

Despite their hyperactivity and circling, homozygous mutant mice are able to breed and care for their young.

References

• Original: J:137493 Du X, et al., A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A. 2008 Sep 23;105(38):14609-14
• All: 3 reference(s)