Ss18l1^em2Zqi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ss18l1^em2Zqi
• Name: SS18, nBAF chromatin remodeling complex subunit like 1; endonuclease-mediated mutation 2, Zilong Qiu
• MGI ID: MGI:6401517
• Synonyms: Crest^Q394X
• Gene: Ss18l1 Location: Chr2:179684302-179711994 bp, + strand Genetic Position: Chr2, 102.56 cM
• Alliance: Ss18l1^em2Zqi page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a glutamine to X change at amino acid 394 (Q394X) in exon 10. This corresponds to the Q388X mutation seen in some sporadic amyotrophic lateral sclerosis patients. Western blot analysis indicates that protein levels are reduced about 20% in the brain and spinal cord of homozygotes. (J:278840)

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 Ss18l1 Mutation: 17 strains or lines available

References

• Original: J:278840 Cheng C, et al., Loss of CREST leads to neuroinflammatory responses and ALS-like motor defects in mice. Transl Neurodegener. 2019;8:13
• All: 1 reference(s)