Wdr45^em1Ljpi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Wdr45^em1Ljpi
• Name: WD repeat domain 45; endonuclease-mediated mutation 1, Louis-Jan Pilaz
• MGI ID: MGI:8240257
• Synonyms: Wdr45 c52C > T
• Gene: Wdr45 Location: ChrX:7588212-7594439 bp, + strand Genetic Position: ChrX, 3.48 cM
• Alliance: Wdr45^em1Ljpi page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting of the first coding exon replicated a point mutation (c.52C>T) identified in patients with Beta-propeller Protein Associated Neurodegeneration (BPAN) that introduces a stop codon early in the coding sequence (p.Q18*). (J:364206)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Wdr45 Mutation: 21 strains or lines available

References

• Original: J:364206 Meyerink BL, et al., Mutation in Wdr45 leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model. Front Neurosci. 2025;19:1545004
• All: 1 reference(s)