Reln^tm1.1Arbo
Targeted Allele Detail

Summary

• Symbol: Reln^tm1.1Arbo
• Name: reelin; targeted mutation 1.1, Joseph Arboleda-Velasquez
• MGI ID: MGI:7532630
• Synonyms: mRELN-COLBOS, RELN H3448R
• Gene: Reln Location: Chr5:22089452-22549700 bp, - strand Genetic Position: Chr5, 9.98 cM, cytoband A3-B1
• Alliance: Reln^tm1.1Arbo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:341134
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Histidine codon 3448 (CAC) in exon 64 was changed to arginine (CGT) (p.H3448R) and a neomycin resistance gene cassette flanked by self-deletion anchor sites was inserted into intron 64. The mutation is the equivalent of the human p.H3447R mutation associated with resilience to autosomal dominant Alzheimers disease (ADAD). (J:341134)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Reln Mutation: 209 strains or lines available

References

• Original: J:341134 Lopera F, et al., Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. Nat Med. 2023 May;29(5):1243-1252
• All: 1 reference(s)