Wdr4^em1Qyn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Wdr4^em1Qyn
• Name: WD repeat domain 4; endonuclease-mediated mutation 1, Quan Yuan
• MGI ID: MGI:7859739
• Synonyms: Wdr4^R215L
• Gene: Wdr4 Location: Chr17:31713296-31738946 bp, - strand Genetic Position: Chr17, 16.56 cM
• Alliance: Wdr4^em1Qyn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 215 (CGG) was changed to leucine (CTG) (p.R215L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This corresponds to the human p.R170L mutation associated with primordial dwarfism. Expression of the mutant protein is elevated in limbs from homozygous mice but m⁷G tRNA modification is greatly inhibited, leading to severely impaired long bone development. (J:355649)

Expression

In Mice Carrying this Mutation:	13 assay results 4 RNA-Seq or microarray experiment(s)
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: 31 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: 2 reference(s)