Dhtkd1^tm1Mmgu
Targeted Allele Detail

Summary

• Symbol: Dhtkd1^tm1Mmgu
• Name: dehydrogenase E1 and transketolase domain containing 1; targeted mutation 1, Ming-min Gu
• MGI ID: MGI:6441735
• Synonyms: Dhtkd1^Y486*
• Gene: Dhtkd1 Location: Chr2:5901030-5947648 bp, - strand Genetic Position: Chr2, 3.62 cM
• Alliance: Dhtkd1^tm1Mmgu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:288186
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A tyrosine to STOP codon at amino acid 486 (p.Y486*) was introduced in exon 8 and part of the intron between exon 8 and exon 9 was replaced with a PGK-neomycin cassette. RT-PCR and Western blot analysis indicates very low mRNA and protein expression, respectively, in homozygotes. The Y486* mutation is equivalent to the Y485* mutation seen in individuals with Charcot-Marie-Tooth disease type 2Q. (J:288186)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Dhtkd1 Mutation: 48 strains or lines available

Notes

ES cell: SCR012

References

• Original: J:288186 Luan CJ, et al., CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. Acta Neuropathol Commun. 2020 Mar 13;8(1):32
• All: 1 reference(s)