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Targeted Allele Detail
Symbol: Dbttm1Geh
Name: dihydrolipoamide branched chain transacylase E2; targeted mutation 1, Gregg E Homanics
MGI ID: MGI:3704091
Synonyms: E2 KO
Gene: Dbt  Location: Chr3:116513070-116549976 bp, + strand  Genetic Position: Chr3, 50.37 cM
Germline Transmission:  Earliest citation of germline transmission: J:119973
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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 Dbt Mutation:  6 strains or lines available
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory