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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:
Chr3:116215988-116252894 bp, + strand
Genetic Position: Chr3,
51.2 cM
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Mutation
origin |
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Germline Transmission:
| 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 |
| |
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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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
|
| Genotype | Allelic Composition | Genetic Background |
|
  hm1
Disease Model |
Dbttm1Geh/Dbttm1Geh |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
lethality/postnatal behavior/neurological homeostasis/metabolism respiratory system renal/urinary system skin/coat/nails |
| Genotype | Allelic Composition | Genetic Background |
|
tg2
Disease Model |
Dbttm1Geh/Dbttm1Geh
Tg(tetO-DBT)A1Geh/0
Tg(tTALap)5Bjd/0 |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI |
lethality/postnatal life span/aging homeostasis/metabolism 1Models involving transgenes or other mutation types may also appear in other sections of the table.
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| Genotype | Allelic Composition | Genetic Background |
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tg3
Disease Model |
Dbttm1Geh/Dbttm1Geh
Tg(tetO-DBT)525AGeh/0
Tg(tTALap)5Bjd/0 |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI |
lethality/postnatal life span/aging homeostasis/metabolism 1Models involving transgenes or other mutation types may also appear in other sections of the table.
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Disease
models
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1Models involving transgenes or other mutation types may also appear in other sections of the table.
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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: |
1 reference(s)
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