Reep6^em2Ruch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Reep6^em2Ruch
• Name: receptor accessory protein 6; endonuclease-mediated mutation 2, Rui Chen
• MGI ID: MGI:6120531
• Synonyms: Reep6^-
• Gene: Reep6 Location: Chr10:80165831-80172275 bp, + strand Genetic Position: Chr10, 39.72 cM, cytoband C1
• Alliance: Reep6^em2Ruch page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9-mediated mutagenesis created a 1 bp insertion in exon 4 that results in a frameshift of the open reading frame. Immunohistochemistry confirmed absence of protein in the retina. (J:243288)

Expression

In Structures Affected by this Mutation:

3 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 Reep6 Mutation: 20 strains or lines available

References

• Original: J:243288 Agrawal SA, et al., REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017 Jul 15;26(14):2667-2677
• All: 4 reference(s)