L1cam^em3Msch
Endonuclease-mediated Allele Detail

Summary

• Symbol: L1cam^em3Msch
• Name: L1 cell adhesion molecule; endonuclease-mediated mutation 3, Melitta Schachner
• MGI ID: MGI:7431218
• Synonyms: L1-201
• Gene: L1cam Location: ChrX:72897384-72924843 bp, - strand Genetic Position: ChrX, 37.43 cM, cytoband A6-B
• Alliance: L1cam^em3Msch page

Mutation origin

• Strain of Origin: C57BL/6J x CBA

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Zinc finger nuclease mediated recombination generated a GAC to AAC codon change resulting in an aspartate to asparagine substitution at amino acid 201 (p.D201N). The G to A exchange at position 73,864,249 (GRCm38.p6) disrupts the restriction site for DdeI and corresponds to a human missense mutation seen in L1 syndrome (MASA syndrome) patients. (J:325776)

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:325776 Loers G, et al., Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics. FASEB J. 2021 Feb;35(2):e21329
• All: 1 reference(s)