Erc2^em1Adiuj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Erc2^em1Adiuj
• Name: ELKS/RAB6-interacting/CAST family member 2; endonuclease-mediated mutation 1, MODEL-AD Center
• MGI ID: MGI:6432781
• Synonyms: Erc2*N542S
• Gene: Erc2 Location: Chr14:27344385-28200494 bp, + strand Genetic Position: Chr14, 16.51 cM
• Alliance: Erc2^em1Adiuj page

Mutation origin

• Strain of Origin: B6(SJL)-Apoe^{tm1.1(APOE*4)Adiuj} Trem2^em1Adiuj/J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Plasmids encoding single guide RNAs were designed to introduce the N542S point mutation (AAT>AGT), the V543V silent mutation (GTT>GTC) and L544L silent mutation (CTT>CTC) into exon 7. The N542S mutation models a missense variant (rs12488237 SNP) that is associated with late-onset Alzheimer's disease risk. (J:101977)

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 Erc2 Mutation: 112 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)