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| Nomenclature |
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Symbol:
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Dbttm1Geh
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Name:
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dihydrolipoamide branched chain transacylase E2;
targeted mutation 1, Gregg E Homanics
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MGI ID: |
MGI:3704091 |
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Synonyms: |
E2 KO |
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Gene:
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Dbt
Location:
Chr3:116513070-116549976 bp, + strand
Genetic Position: Chr3,
50.37 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:119973
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A targeting vector was used to replace part of exon 4 and all of exon 5 with a PGKneo cassette.
Southern blot and immunohistochemical analyses verify the absence of wild-type E2 transcripts and lack of E2 protein detection in homozygotes.
(J:119973)
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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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| References |
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Original: |
J:119973
Homanics GE et al.,
"Production and characterization of murine models of classic and intermediate maple syrup urine disease."
BMC Med Genet 2006;7():33
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All: |
2 reference(s)
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Analysis Tools
