Lrsam1^em1Gebai
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lrsam1^em1Gebai
• Name: leucine rich repeat and sterile alpha motif containing 1; endonuclease-mediated mutation 1, Ge Bai
• MGI ID: MGI:7645904
• Synonyms: Lrsam1^C698Y, Lrsam1^CMT2P
• Gene: Lrsam1 Location: Chr2:32815228-32851626 bp, - strand Genetic Position: Chr2, 22.09 cM
• Alliance: Lrsam1^em1Gebai page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Cysteine codon 698 (TGC) in exon 25 was changed to tyrosine (TAC) (p.C698Y) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. Mutations is the human ortholog are associated with Charcot-Marie-Tooth disease type 2P (CMT2P). (J:347500)

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 Lrsam1 Mutation: 32 strains or lines available

References

• Original: J:347500 Cui Q, et al., Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules. Cell. 2023 Feb 16;186(4):803-820.e25
• All: 1 reference(s)