Snx10^em2Ael
Endonuclease-mediated Allele Detail

Summary

• Symbol: Snx10^em2Ael
• Name: sorting nexin 10; endonuclease-mediated mutation 2, Ari Elson
• MGI ID: MGI:6111481
• Gene: Snx10 Location: Chr6:51500882-51567659 bp, + strand Genetic Position: Chr6, 24.95 cM, cytoband B3
• Alliance: Snx10^em2Ael page

Mutation origin

• Strain of Origin: C57BL/6JOlaHsd

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR targeting introduced a G to A point mutation in exon 4 that results in the amino acid substitution of glutamine for arginine at position 51 (R51Q). (J:289051)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Snx10 Mutation: 142 strains or lines available

References

• Original: J:289051 Stein M, et al., Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice. Bone. 2020 Jul;136:115360
• All: 1 reference(s)