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Erc2em1Adiuj
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Erc2em1Adiuj
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: Chr14:27622428-28478537 bp, + strand  Genetic Position: Chr14, 16.51 cM
Mutation
origin
Strain of Origin:  B6(SJL)-Apoetm1.1(APOE*4)Adiuj Trem2em1Adiuj/J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsPlasmids 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:  87 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 Unpublished. 2005-2017;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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory