Dhtkd1^tm1Zgwg
Targeted Allele Detail

Summary

• Symbol: Dhtkd1^tm1Zgwg
• Name: dehydrogenase E1 and transketolase domain containing 1; targeted mutation 1, Zhugang Wang
• MGI ID: MGI:6260051
• Gene: Dhtkd1 Location: Chr2:5901030-5947648 bp, - strand Genetic Position: Chr2, 3.62 cM
• Alliance: Dhtkd1^tm1Zgwg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:267178
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-Neomycin cassette replaced exons 2-4 via homologous recombination. RT-PCR confirmed absence of mRNA in liver and kidney and Western blot analysis confirmed absence of protein in liver and kidney. (J:267178)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dhtkd1 Mutation: 48 strains or lines available

References

• Original: J:267178 Xu WY, et al., DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. Mol Cell Biol. 2018 Jul 1;38(13)
• All: 1 reference(s)