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Chemically induced Allele Detail
Symbol: Tomtm1Btlr
Name: transmembrane O-methyltransferase; mutation 1, Bruce Beutler
MGI ID: MGI:3800574
Synonyms: add
Gene: Tomt  Location: Chr7:101898370-101906359 bp, - strand  Genetic Position: Chr7, 54.68 cM
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsMice 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).
Disease models
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:  7 strains or lines available
Despite their hyperactivity and circling, homozygous mutant mice are able to breed and care for their young.
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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