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. 2021 Oct 11;13:735524. doi: 10.3389/fnagi.2021.735524

Table 1.

Description of novel mouse strains expressing human LOAD risk alleles.

Common name JAX stock # Strain Background Gene location Allele name Allele type Additional considerations
B6 000664 C57BL/6J - - - - -
Trem2*R47H 027918 C57BL/6J- Trem2em1 Adiuj/J C57BL/6J Chr17:4834 6401- 48352276 Trem2 R47H KI Cas9 endonuclease- mediated (humanized sequence) - Two silent mutations (lysine AAG>AAA and alanine GCC>GCA) into Trem2 - R47H mutation also introduces a cryptic splice acceptor site in exon 2, creating a novel splice variant with a deletion of 119bp at the 5’ end of exon 2.
APOE4 027894 B6(SJL)- Apoetm1.1(APOE*4) Adiuj/J C57BL/6J Chr7:19696 109-19699188 APOE4 KI FRT site flanked PGK- neo cassette targeted mutation (gene replacement) - Exons 2, 3, and a majority of exon 4 of the mouse Apoe gene were replaced by exons 2, 3, and 4 of the human APOE gene sequence (including a portion of the 3’ UTR sequence) - Expression of FLP recombinase was used to remove the FRT site flanked PGK-neo cassette and subsequently backcrossed to remove FLP recombinase
APOE4. Trem2*R47H 028709 B6(SJL)- Apoetm1.1(APOE*4)Adiuj Trem2em1Adiuj/J C57BL/6J (see above) (see above) (see above) (see above)

Mouse strains expressing Trem2*R47H and APOEε4 human late-onset Alzheimer Disease risk factors, alone or in combination, developed on the C57BL/6J background and distributed by The Jackson Laboratory (https://www.jax.org/mouse-search).