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| Nomenclature |
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Symbol:
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Tomtm1Btlr
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Name:
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transmembrane O-methyltransferase;
mutation 1, Bruce Beutler
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MGI ID: |
MGI:3800574 |
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Synonyms: |
add |
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Gene:
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Tomt
Location:
Chr7:101898373-101903785 bp, - strand
Genetic Position: Chr7,
54.68 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Despite their hyperactivity and circling, homozygous mutant mice are able to breed and care for their young.
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
