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Tomtm1Btlr
Chemically induced Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory