Dbt^tm1Geh
Targeted Allele Detail

Summary

• Symbol: Dbt^tm1Geh
• Name: dihydrolipoamide branched chain transacylase E2; targeted mutation 1, Gregg E Homanics
• MGI ID: MGI:3704091
• Synonyms: E2 KO
• Gene: Dbt Location: Chr3:116306776-116343630 bp, + strand Genetic Position: Chr3, 50.37 cM
• Alliance: Dbt^tm1Geh page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 39 strains or lines available

References

• 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: 3 reference(s)