Prickle3^em1Mxg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prickle3^em1Mxg
• Name: prickle planar cell polarity protein 3; endonuclease-mediated mutation 1, Min-Xin Guan
• MGI ID: MGI:6502853
• Gene: Prickle3 Location: ChrX:7523499-7534425 bp, + strand Genetic Position: ChrX, 3.45 cM
• Alliance: Prickle3^em1Mxg page

Mutation origin

• Strain of Origin: C57BL/6JSlacc

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting of exon 3 produced a 13 bp deletion causing a frameshift mutation that results in a truncated protein with 61 amino acids (p.E61*). (J:300151)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Prickle3 Mutation: 7 strains or lines available

References

• Original: J:300151 Yu J, et al., PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. J Clin Invest. 2020 Sep 1;130(9):4935-4946
• All: 1 reference(s)