Dhtkd1^em1Hpr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dhtkd1^em1Hpr
• Name: dehydrogenase E1 and transketolase domain containing 1; endonuclease-mediated mutation 1, Holger Prokisch
• MGI ID: MGI:6268324
• Gene: Dhtkd1 Location: Chr2:5901030-5947648 bp, - strand Genetic Position: Chr2, 3.62 cM
• Alliance: Dhtkd1^em1Hpr page

Mutation origin

• Strain of Origin: (FVB/N x C57BL/6N)F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: TALEN technology generated a 19 bp deletion (c.1258_127del) in exon 7. This deletion is predicted to result in a premature stop codon at amino acid 431 and resembles the patient variant p.Arg410*. Western blot analysis confirmed absence of protein in homozygotes. (J:256227)

Disease models

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: 47 strains or lines available

References

• Original: J:256227 Biagosch C, et al., Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. Biochim Biophys Acta. 2017 Sep;1863(9):2220-2228
• All: 1 reference(s)