Reep6^em1Ruch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Reep6^em1Ruch
• Name: receptor accessory protein 6; endonuclease-mediated mutation 1, Rui Chen
• MGI ID: MGI:6118044
• Synonyms: Reep6^L135P
• Gene: Reep6 Location: Chr10:80165831-80172275 bp, + strand Genetic Position: Chr10, 39.72 cM, cytoband C1
• Alliance: Reep6^em1Ruch page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR-Cas9 mediated mutagenesis created a T to C missense mutation at position 404 (c404T>C) in exon 4 resulting in a proline substitution for leucine at amino acid 135 (pLeu135Pro) that has been identified in patients with Retinitis Pigmentosa. Western blot analysis indicates that protein levels in the retina are similar to that in wild-type mice. (J:248574)

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 Reep6 Mutation: 20 strains or lines available

References

• Original: J:248574 Arno G, et al., Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315
• All: 2 reference(s)