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JAX Frontend Platform

Gene Replacement Models

MODEL

JAX #

TYPE

DESCRIPTION

SOURCE

NOMENCLATURE

REFERENCE

APOE3-GR

38918

Genome replacement

A 30kB deletion including mouse Apoe to Apoc2 is replaced by the syntenic 47kB region from human chromosome 19 including human APOE (isoform E3) to APOC2

Koob

B6J.B6N-Tc(HSA19*APOE_i3)1Mdk/J

PMID:38343132

APOE4-GR

38919

Genome replacement

A 30kB deletion including mouse Apoe to Apoc2 is replaced by the syntenic 47kB region from human chromosome 19 including human APOE (isoform E4) to APOC2

Koob

B6J.B6N-Tc(HSA19*APOE_i4)1Mdk/J

PMID:38343132

APP-GR

38920

Genome replacement

350kB human construct replacing mouse App

Koob

B6J.B6N-Apptm1.1(APP)Mdk/J

PMID:38343132

MAPT(H1.0)-GR

35398

Genome replacement

190kB human construct of H1 haplotype replacing mouse Mapt

Koob

B6J.B6N-Tc(HSA17)2Mdk/J

PMID:38343132

MAPT(H2.1)-GR

33668

Genome replacement

190kB human construct of H2 haplotype replacing mouse Mapt

Koob

B6J.B6N(CBA)-Tc(HSA17)1Mdk/J

PMID:38343132

MAPT(H1.0*)P301L-GR

37420

Genome replacement

190kB human construct of H1 haplotype with P301L variant replacing mouse Mapt

Koob

B6J.B6N-Tc(HSA17*P301L)1Mdk/J

PMID:38343132

MAPT(H1.0*N279K)-GR

35794

Genome replacement

190kB human construct of H1 haplotype with N279K risk variant replacing mouse Mapt

Koob

B6J.B6N(Cg)-Tc(HSA17*N279K)1Mdk/J

PMID:38343132

MAPT 10IVS+16 C>T

36664

Genome replacement

190kB human construct of H1 haplotype with non-coding C to T (rs63751011) mutation in intron 10 replacing mouse Mapt

Koob

B6(Cg)-Tc(HSA17*)1Mdk/J

PMID:38343132

PSEN1-GR

39177

Genome replacement

106kB human construct replacing the mouse Psen1 locus

Koob

B6J.B6N-Psen1tm1.1(PSEN1)Mdk/J

PMID:38343132

SNCA-GR WT

39166

Genome replacement

158kB of the human SNCA genomic region replaces the mouse Snca locus

Koob

B6J.B6N-Sncatm1.1(SNCA)Mdk/J

PMID:38343132

SNCA-GR A53T

39167

Genome replacement

158kB of the human SNCA genomic region with the A53T mutation replaces the mouse Snca locus

Koob

B6J.B6N-Sncatm2.1(SNCA*A53T)Mdk/J

PMID:38343132
SNCA-GR E46K39168

Genome replacement

158kB of the human SNCA-GR E46K genomic region with the E46K mutation replaces the mouse Snca locus

Koob

B6J.B6N-Sncatm3.1(SNCA*E46K)Mdk/J

PMID:38343132

TARDBP-GR

39101

Genome replacement

65kB human TARDBP genomic region replacing the mouse Tardbp locus

Koob

B6J.B6N-Tardbptm1.1(TARDBP)Mdk/J

PMID:38343132

TREM2-GR wt

39172

Genome replacement

280kB human TREM2 genomic region (also including TREM1, TREML1, TREML2, TREML4, NCR2) replacing the mouse Trem2 locus.

Koob

C57BL/6-Tc(HSA6)1Mdk/J

PMID:38343132

TREM2-GR*R47H

39173

Genome replacement

280kB human TREM2 genomic region with the R47H AD risk variant (also including TREM1, TREML1, TREML2, TREML4, NCR2) replacing the mouse Trem2 locus.

Koob

C57BL/6-Tc(HSA6_TREM2*R47H)1Mdk/J

PMID:38343132

TREM2-GR rs9357347-C

39174

Genome replacement

280kB human TREM2 genomic region with a protective non-coding SNP (also including TREM1, TREML1, TREML2, TREML4, NCR2) replacing the mouse Trem2 locus.

Koob

C57BL/6-Tc(HSA6*rs9357347-C)1Mdk/J

PMID:38343132

P1At (3X-GR)

39175

Genome replacement

MAPT(H2.1)-GR; PSEN1-GR; APP-GR

Koob

B6J.B6N(CBA)-Tc(HSA17)1Mdk Psen1tm1.1(PSEN1)Mdk Apptm1.1(APP)Mdk/J


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