Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Tomtm1Btlr
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:	Tomtm1Btlr page

Strain of Origin:	C57BL/6J
Project Collection:	Beutler Mutagenetix

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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)