Wdr45^em1Ljl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Wdr45^em1Ljl
• Name: WD repeat domain 45; endonuclease-mediated mutation 1, Lujian Liao
• MGI ID: MGI:6720351
• Gene: Wdr45 Location: ChrX:7588212-7594439 bp, + strand Genetic Position: ChrX, 3.48 cM
• Alliance: Wdr45^em1Ljl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting of exon 6 removed the two bases at the end of the exon. The resulting frameshift leads to a premature stop codon. This mutation mimics on identified in a human patient with beta-propeller protein-associated neuro-degeneration (BPAN). (J:297824)

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 Wdr45 Mutation: 21 strains or lines available

References

• Original: J:297824 Wan H, et al., WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. Autophagy. 2020 Mar;16(3):531-547
• All: 2 reference(s)