Smcr8^em1Fehu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Smcr8^em1Fehu
• Name: Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 1, Fenghua Hu
• MGI ID: MGI:7448530
• Synonyms: smcr8^-
• Gene: Smcr8 Location: Chr11:60668351-60679113 bp, + strand Genetic Position: Chr11, 37.83 cM
• Alliance: Smcr8^em1Fehu page

Mutation origin

• Strain of Origin: (C57BL/6J x FVB/N)F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing used sgRNA (5'- GATCAGCGCCCCTGATGTGG-3') and cas9 endonuclease to delete 122 bp just after start codon. The deletion results in a frameshift and early stop codon after 22 amino acids. (J:294772)

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:294772 Lan Y, et al., SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis. Autophagy. 2019 May;15(5):871-885
• All: 1 reference(s)