Dhtkd1^m1
Spontaneous Allele Detail

Summary

• Symbol: Dhtkd1^m1
• Name: dehydrogenase E1 and transketolase domain containing 1; mutation 1
• MGI ID: MGI:6888016
• Gene: Dhtkd1 Location: Chr2:5901030-5947648 bp, - strand Genetic Position: Chr2, 3.62 cM
• Alliance: Dhtkd1^m1 page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Insertion
• Mutation details: The allele contains a solitary long terminal repeat inserted into intron 4 that inserts an alternative splice donor site resulting in reduced transcript expression. The alternative splice donor site has been detected in A/J, AKR/J. C57BL/6NJ, FVB/NJ, NOD/ShiLtJ, and NZO/HlLtJ. It is absent in 129P2/OlaHsd, 129S1/SvImJ, 129S5/SvEvBrd, BALB/cJ, C3H/HeJ, CAST/EiJ, CBA/J, DBA2J, LP/J, PWK/PhJ, SPRET/EiJ, and WSB/EiJ. (J:321710)

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:321710 Leandro J, et al., Mild inborn errors of metabolism in commonly used inbred mouse strains. Mol Genet Metab. 2019;126(4):388-396
• All: 2 reference(s)