Wdr4^em1Bcgen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Wdr4^em1Bcgen
• Name: WD repeat domain 4; endonuclease-mediated mutation 1, Biocytogen LLC
• MGI ID: MGI:7859739
• Synonyms: Wdr4^R215L
• Gene: Wdr4 Location: Chr17:31713296-31738946 bp, - strand Genetic Position: Chr17, 16.56 cM
• Alliance: Wdr4^em1Bcgen page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated
• Mutation: Single point mutation
• Mutation details: CRISPR/cas9 mediated recombination created a G to T mutation resulting in an Arg to Leu substitution at position 215. This corresponds to the human R170L mutation. Expression of the mutant protein is elevated in limbs from homozygous mice but modification of tRNA m⁷G is greatly inhibited. (J:355649)

Expression

In Structures Affected by this Mutation:

7 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 Wdr4 Mutation: 32 strains or lines available

References

• Original: J:355649 Li Q, et al., Metabolic rewiring during bone development underlies tRNA m7G-associated primordial dwarfism. J Clin Invest. 2024 Sep 10;134(20)
• All: 1 reference(s)