Smcr8^em2Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Smcr8^em2Btlr
• Name: Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 2, Bruce Beutler
• MGI ID: MGI:6272388
• Synonyms: Smcr8^I2T
• Gene: Smcr8 Location: Chr11:60668351-60679113 bp, + strand Genetic Position: Chr11, 37.83 cM
• Alliance: Smcr8^em2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: The CRISPR/Cas9 system and sgRNA 5'-GATCAGCGCCCCTGATGTGG-3' was used. Mice contain three separate point mutations on chromosome 11: 60,778,032 (T>C), 60,778,048 (G>A), and 60,778,078 (G>A). The first mutation results in an isoleucine-to-threonine change in amino acid 2 (p.I2T) of the SMCR8 protein while the latter two are silent and result in no coding changes. (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)