Tgds^em2Gtbo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tgds^em2Gtbo
• Name: TDP-glucose 4,6-dehydratase; endonuclease-mediated mutation 2, Guido T Bommer
• MGI ID: MGI:8244798
• Gene: Tgds Location: Chr14:118349323-118370167 bp, - strand Genetic Position: Chr14, 61.74 cM
• Alliance: Tgds^em2Gtbo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:371720
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a frameshift deletion-insertion, c.301_c.331+26delinsAC (p.Val95Thrfs Ter 17), leading to a premature termination codon and the complete loss of protein function. (J:371720)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Tgds Mutation: 20 strains or lines available

References

• Original: J:371720 Jacobs J, et al., A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia. Nature. 2025 Aug 20
• All: 1 reference(s)