Smcr8^em1Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Smcr8^em1Btlr
• Name: Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 1, Bruce Beutler
• MGI ID: MGI:6272384
• Gene: Smcr8 Location: Chr11:60668351-60679113 bp, + strand Genetic Position: Chr11, 37.83 cM
• Alliance: Smcr8^em1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A 26-bp deletion of chromosome 11 (60,778,048-60,778,073) in exon 1 of Smcr8 was created using the CRISPR/Cas9 system and sgRNA 5'-GGGATCTTCGTCTTCTGACG-3'. This deletion result in a predicted frameshifted protein product beginning after amino acid 7 of the protein and terminating after the inclusion of six aberrant amino acids. (J:268243)

Expression

In Structures Affected by this Mutation:

4 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 Smcr8 Mutation: 40 strains or lines available

References

• Original: J:268243 McAlpine W, et al., Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function. Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):E11523-E11531
• All: 1 reference(s)