L1cam^em1Msch
Endonuclease-mediated Allele Detail

Summary

• Symbol: L1cam^em1Msch
• Name: L1 cell adhesion molecule; endonuclease-mediated mutation 1, Melitta Schachner
• MGI ID: MGI:6782864
• Synonyms: SKHSSS
• Gene: L1cam Location: ChrX:72897384-72924843 bp, - strand Genetic Position: ChrX, 37.43 cM, cytoband A6-B
• Alliance: L1cam^em1Msch page

Mutation origin

• Strain of Origin: C57BL/6J x CBA

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: Zinc finger nuclease mediated recombination converted the sequence AGAAAGCACAGCAAGAGG (position 73,857,812-73,857,795) to AGCAAGCACAGCTCGAGC changing the amino acid sequence at positions 858-863 from RKHSKR to SKHSSS. This mutation disrupts the MBP cleavage site preventing the production of the L1-70 and L1-80 fragments. However, the full length protein is expressed. (J:308569)

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 L1cam Mutation: 11 strains or lines available

References

• Original: J:308569 Kleene R, et al., Revisiting the proteolytic processing of cell adhesion molecule L1. J Neurochem. 2021 May;157(4):1102-1117
• All: 1 reference(s)