Comttm2(COMT)Xzho
Targeted Allele Detail
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Symbol: |
Comttm2(COMT)Xzho |
Name: |
catechol-O-methyltransferase; targeted mutation 1, Xianjin Zhou |
MGI ID: |
MGI:5661843 |
Synonyms: |
Human COMT Met |
Gene: |
Comt Location: Chr16:18225636-18245602 bp, - strand Genetic Position: Chr16, 11.4 cM
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Alliance: |
Comttm2(COMT)Xzho page
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Germline Transmission: |
Earliest citation of germline transmission:
J:224284
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129
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Allele Type: |
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Targeted (Inserted expressed sequence, Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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Comttm2(COMT)Xzho expresses
1 gene
Knock-in expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
COMT (1312) |
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The human sequence is modified to contain the amino acid substitution Val158Met. |
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Mutation details: The targeting construct was designed to replace the entire endogenous coding region with the human sequence following by a neomycin (neo) resistance cassette. A missense mutation was introduced in exon 3, corresponding with human codon 158, resulting in the Val158Met mutation commonly associated with schizophrenia and other psychiatric disorders. Western blot analysis confirmed the absence of protein expression in the hippocampus and cortex.
(J:224284)
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:224284 Risbrough V, et al., Generation and characterization of humanized mice carrying COMT158 Met/Val alleles. Neuropsychopharmacology. 2014 Jul;39(8):1823-32 |
All: |
2 reference(s) |
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