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Human Disease and Mouse Model Detail
Human Disease

Term: Systemic Lupus Erythematosus; SLE
OMIM ID: 152700

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Dnase1 DNASE1
Fcgr2b FCGR2B
Ptpn22 PTPN22
  mousehuman...both mouse and human orthologous genes.
     
C1qa C1QA
C4b C4B
Ccr2 CCR2
Cd19 CD19
Cd4 CD4
Cdkn1a CDKN1A
Csf2 CSF2
Def6 DEF6
Ep300 EP300
Fas FAS
Gadd45a GADD45A
Ikzf3 IKZF3
Il3 IL3
Junb JUNB
Kit KIT
Lyn LYN
Lyz2 none identified
Man2a1 MAN2A1
Mta2 MTA2
Pparg PPARG
Psen1 PSEN1
Psen2 PSEN2
Ptprc PTPRC
Rasgrp1 RASGRP1
Rassf5 RASSF5
Rc3h1 RC3H1
Rxra RXRA
Tnfrsf13b TNFRSF13B
Tnfrsf9 TNFRSF9
Traf3ip2 TRAF3IP2
Trove2 TROVE2
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Bank1 BANK1
C4a C4A
Trex1 TREX1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Igh   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Igh-J
Igk
Tcrb
Tcrd
Tg(ACTB-TNFRSF6B)754Jwu
Tg(Igh-V-CD40lg)#Tsub
Yaa

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Dnase1tm1Tmo/Dnase1tm1Tmo   involves: 129P2/OlaHsd * C57BL/6 J:62549
Fcgr2btm1Ttk/Fcgr2btm1Ttk
Traf3ip2tm1Sbn/Traf3ip2+		   involves: 129 * 129S4/SvJae * C57BL/6 J:191090
Fcgr2btm1Ttk/Fcgr2btm1Ttk   B6.129S4-Fcgr2btm1Ttk J:64152
Ptpn22tm2Achn/Ptpn22tm2Achn
Ptprctm1Weis/Ptprctm1Weis		   B6.Cg-Ptprctm1Weis Ptpn22tm2Achn J:147129
Models with phenotypic similarity to human disease where etiologies are distinct.2
C1qatm1Mjw/C1qatm1Mjw   involves: 129P2/Ola * 129S/SvEv * C57BL/6 J:47315
C4btm1Crr/C4btm1Crr   involves: 129S4/SvJae * C57BL/6J J:111811
Ccr2tm1Blck/Ccr2tm1Blck
Faslpr/Faslpr		   MRL.Cg-Ccr2tm1Blck Faslpr J:113343
Cd19tm1(cre)Cgn/Cd19+
Ep300tm2Reck/Ep300+		 5 involves: 129/Sv * 129P2/OlaHsd * C57BL/6 J:147840
Cd4tm1Mak/Cd4tm1Mak
Igh-Jtm2(3H9-VDJ*)Mwg/Igh-J+		   B6.Cg-Cd4tm1Mak Igh-Jtm2(3H9-VDJ*)Mwg J:142389
Cdkn1atm1Led/Cdkn1atm1Led   involves: 129S6/SvEvTac J:76041
Cdkn1atm1Led/Cdkn1atm1Led
Gadd45atm1Ajf/Gadd45atm1Ajf		   either: (involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6) or (involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6) J:76041
Csf2tm1Dran/Csf2tm1Dran
Il3tm1Glli/Il3tm1Glli		   B6.129S2-Csf2tm1Dran Il3tm1Glli J:83086
Def6Gt(OST307148)Lex/Def6Gt(OST307148)Lex   involves: 129S5/SvEvBrd * C57BL/6 J:106469
Faslpr/Faslpr
Tnfrsf9tm1Byk/Tnfrsf9tm1Byk		   MRL.Cg-Tnfrsf9tm1Byk Faslpr J:120559
Faslpr/Faslpr   MRL/Mp-Faslpr J:27634, J:28885, J:108760, J:131138
Faslpr/Faslpr
Igh-Jtm2(3H9-VDJ*)Mwg/Igh-J+		   MRL.Cg-Faslpr Igh-Jtm2(3H9-VDJ*)Mwg J:131138
Gadd45atm1Ajf/Gadd45atm1Ajf   either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129X1/SvJ * C57BL/6) J:76041
Ikzf3tm1Kge/Ikzf3tm1Kge   involves: 129S4/SvJae * C57BL/6 J:50626, J:81805
Junbtm3Wag/Junbtm3Wag
Tg(KRT5-cre)1Tak/0		 5 involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6 J:155575
KitW-sh/KitW-sh
Lyntm1Ard/Lyntm1Ard		   involves: 101 * 129P2/OlaHsd * C3H/HeH J:161523
Lyntm1Ard/Lyntm1Ard   involves: 129P2/OlaHsd J:161523
Man2a1tm1Jxm/Man2a1tm1Jxm   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:74579
Mta2tm1.1Yzha/Mta2tm1.1Yzha   involves: 129S4/SvJae * C57BL/6 * FVB/N J:137101
Ppargtm1.1Gonz/Ppargtm1.1Gonz
Lyz2tm1(cre)Ifo/Lyz2+		 5 involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 J:168799
Psen1tm1Bdes/Psen1+
Psen2tm1Bdes/Psen2tm1Bdes		   involves: 129P2/OlaHsd J:91235
Ptprctm1Weis/Ptprctm1Weis   involves: 129X1/SvJ * C57BL/6 J:66501
Ptprctm1Weis/Ptprc+   involves: 129X1/SvJ * C57BL/6 J:66501
Rasgrp1lag/Rasgrp1lag   involves: 129 * C57BL/6 J:85189
Rassf5tm1Kina/Rassf5tm1Kina   B6.Cg-Rassf5tm1Kina J:168749
Rc3h1san/Rc3h1san   either: C57BL/6-Rc3h1san or (involves: C57BL/6 * CBA/Ca) J:98938
Rxratm1Krc/Rxratm1Krc
Lyz2tm1(cre)Ifo/Lyz2+		 5 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:168799
Tnfrsf13btm1Vmd/Tnfrsf13btm1Vmd   involves: C57BL/6 J:82331
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix   B6.129-Traf3ip2tm1.1Lix J:187766
Trove2tm1Woln/Trove2+   involves: 129S1/Sv * C57BL/6 J:84627
Trove2tm1Woln/Trove2tm1Woln   B6.129S1-Trove2tm1Woln J:84627
Trove2tm1Woln/Trove2tm1Woln   involves: 129S1/Sv * C57BL/6 J:84627
Models involving transgenes or other mutation types.3
Cd4tm1Mak/Cd4tm1Mak
Igh-Jtm2(3H9-VDJ*)Mwg/Igh-J+		   B6.Cg-Cd4tm1Mak Igh-Jtm2(3H9-VDJ*)Mwg J:142389
Faslpr/Faslpr
Igh-Jtm2(3H9-VDJ*)Mwg/Igh-J+		   MRL.Cg-Faslpr Igh-Jtm2(3H9-VDJ*)Mwg J:131138
Igh-Jtm2(3H9-VDJ*)Mwg/Igh-J+   B6.129P2-Igh-Jtm2(3H9-VDJ*)Mwg J:142389
Ightm1(Igh564)Tik/Ightm1(Igh564)Tik
Igktm1(Igk564)Tik/Igktm1(Igk564)Tik		   B6.129S4-Igktm1(Igk564)Tik Ightm1(Igh564)Tik J:113555
Tcrbtm1Mom/Tcrbtm1Mom
Tcrdtm1Mom/Tcrdtm1Mom
Igh-Jtm2(3H9-VDJ*)Mwg/Igh-J+		   B6.129P2-Tcrbtm1Mom Igh-Jtm2(3H9-VDJ*)Mwg Tcrdtm1Mom J:142389
Tg(ACTB-TNFRSF6B)754Jwu/?   B6.Cg-Tg(Actb-TNFRSF6B)754Jwu J:148162
Tg(Igh-V-CD40lg)#Tsub/0   C57BL/6-Tg(Igh-V-CD40lg)#Tsub J:128824
X/Yaa   BXSB/MpJ J:6235, J:7308, J:108760
X/Yaa   (NZW x SB)F1 J:7276
X/Yaa   (NZW x BXSB)F1 J:7276
X/Yaa   BXSB/MpJScr J:10973
X/Yaa   (NZB x BXSB)F1 J:6235
No similarity to the expected human disease phenotype was found.4
NOT Csf2tm1Dran/Csf2tm1Dran
Ifngtm1Ts/Ifngtm1Ts
Il3tm1Glli/Il3tm1Glli		   involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 J:83086

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Models involving transgenes or other mutation types may also appear in other sections of the table.
4One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
5Conditionally targeted allele(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory