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Human Disease and Mouse Model Detail
Human Disease

Term: Huntington Disease; HD
OMIM ID: 143100

Synonyms Huntington Chorea
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...
Htt HTT
  mousehuman...both mouse and human orthologous genes.
     
Cnr1 CNR1
Drd1a DRD1
Zdhhc13 ZDHHC13
Zdhhc17 ZDHHC17
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Tg(Camk2a-tTA)1Mmay   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(GFAP-HTT*160Q)1Xjl
Tg(GFAP-HTT*160Q)31Xjl
Tg(HD)63Aron
Tg(HD82Gln)81Dbo
Tg(HDexon1)61Gpb
Tg(HDexon1)62Gpb
Tg(HTT*)1Xwy
Tg(HTT*97Q)IXwy
Tg(HTT*/EGFP)150Nn
Tg(HTT*/EGFP)190Nn
Tg(Ppp1r1b-HTT*)1Meeh
Tg(Prnp-HTT*82Q)52Caro
Tg(Prnp-HTT*82Q,KRT14-EGFP)C63Dbo
Tg(tetO-HTT*94Q,-lacZ)1Rhn
Tg(YAC128)53Hay
Tg(YAC128)55Hay
Tg(YAC72)2511Hay

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Htttm1.1Pfs/Htt+   involves: 129S4/SvJae * C57BL/6 J:54906
Htttm1.1Tna/Htttm1.1Tna   involves: 129P2/OlaHsd * C57BL/6J J:76017
Htttm1.1Tna/Htt+   involves: 129P2/OlaHsd * C57BL/6J J:76017
Htttm1Detl/Htttm1Detl   involves: 129P2/OlaHsd * C57BL/6J J:67074
Htttm1Detl/Htt+   involves: 129P2/OlaHsd * C57BL/6J J:67074
Htttm1Hay/Htt+   involves: C57BL/6J J:25941
Htttm1Mfc/Htttm1Mfc   involves: 129S1/Sv * C57BL/6 J:85298, J:141673
Htttm1Szi/Htttm2Szi
Tg(Camk2a-cre)2Szi/0		 5 involves: 129S/SvEv * 129S1/Sv * C57BL/6 * CBA J:65520
Htttm1Szi/Htttm2Szi
Tg(Camk2a-cre)1Szi/0		 5 involves: 129S/SvEv * 129S1/Sv * C57BL/6 * CBA J:65520
Htttm2.1Pfs/Htt+   involves: 129X1/SvJ * C57BL/6 J:54906
Htttm2Detl/Htttm2Detl   involves: 129P2/OlaHsd * C57BL/6J J:123681
Htttm2Msl/Htttm2Msl   involves: 129S1/Sv * C57BL/6J J:76018, J:79137
Htttm4Mem/Htt+   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:60937
Htttm4Mem/Htttm4Mem   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:60937, J:99425, J:111237
Htttm5Mem/Htttm5Mem   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:60937, J:99425, J:111237
Htttm5Mem/Htt+   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:60937
Models with phenotypic similarity to human disease where etiologies are distinct.2
Cnr1tm1Map/Cnr1tm1Map
Tg(HD82Gln)81Dbo/0		   involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * CD-1 J:172874
Drd1atm2Jcd/Drd1a+
Tg(Camk2a-cre)2Gsc/0		 5 involves: 129S4/SvJae * FVB/N J:120070
Gt(ROSA)26Sortm1(HD*103Q)Xwy/?
Tg(Nes-cre)1Kln/?		 5 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL J:99759
Zdhhc13Gt(AC0492)Wtsi/Zdhhc13Gt(AC0492)Wtsi   FVB.129P2-Zdhhc13Gt(AC0492)Wtsi J:191129
Zdhhc17Gt(RRJ233)Byg/Zdhhc17Gt(RRJ233)Byg   FVB.129P2-Zdhhc17Gt(RRJ233)Byg J:175800
Models involving transgenes or other mutation types.3
Cnr1tm1Map/Cnr1tm1Map
Tg(HD82Gln)81Dbo/0		   involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * CD-1 J:172874
Tg(Camk2a-tTA)1Mmay/0
Tg(tetO-HTT*94Q,-lacZ)1Rhn/0		   involves: C57BL/6 * CBA J:61490
Tg(GFAP-HTT*160Q)1Xjl/0   either: (involves: FVB/NCrl) or (involves: C3H * C57BL/6 * FVB/NCrl) J:156460
Tg(GFAP-HTT*160Q)31Xjl/0   either: (involves: FVB/NCrl) or (involves: C3H * C57BL/6 * FVB/NCrl) J:156460
Tg(HD)63Aron/?   involves: C57BL/6 * SJL J:72772
Tg(HD82Gln)81Dbo/0   involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * CD-1 J:172874
Tg(HD82Gln)81Dbo/0   involves: C3H/HeJ * C57BL/6 J:53797
Tg(HDexon1)61Gpb/?   involves: C57BL/6 * CBA J:42085
Tg(HDexon1)62Gpb/0   involves: C57BL/6J * CBA/J J:36689
Tg(HDexon1)62Gpb/0   B6CBA-Tg(HDexon1)62Gpb/1J J:99425, J:111237
Tg(HDexon1)62Gpb/0   involves: C57BL/6 * CBA J:42085
Tg(HTT*/EGFP)150Nn/0   involves: C57BL/6 * DBA/2 J:174269
Tg(HTT*/EGFP)190Nn/0   involves: C57BL/6 * DBA/2 J:174269
Tg(HTT*)1Xwy/0   FVB-Tg(HTT*)1Xwy J:157723
Tg(HTT*97Q)IXwy/0   FVB-Tg(HTT*97Q)IXwy J:137345
Tg(Ppp1r1b-HTT*)1Meeh/0   C57BL/6J-Tg(Ppp1r1b-HTT*)1Meeh J:139807
Tg(Prnp-HTT*82Q)52Caro/0   involves: C3H * C57BL/6 J:179364
Tg(Prnp-HTT*82Q,KRT14-EGFP)C63Dbo/0   Not Specified J:173756
Tg(YAC128)53Hay/0   FVB/N-Tg(YAC128)53Hay J:84453, J:105723, J:111237
Tg(YAC128)55Hay/0   FVB/N-Tg(YAC128)55Hay J:105723
Tg(YAC128)55Hay/Tg(YAC128)55Hay   FVB/N-Tg(YAC128)55Hay J:105723, J:105728
Tg(YAC72)2511Hay/?   involves: FVB/N J:55405
Tg(YAC72)2511Hay/Tg(YAC72)2511Hay   FVB/N-Tg(YAC72)2511Hay J:105728
No similarity to the expected human disease phenotype was found.4
NOT Emx1tm1(cre)Ito/?
Gt(ROSA)26Sortm1(HD*103Q)Xwy/?		 5 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL J:99759
NOT Hap1tm1Hay/Hap1tm1Hay   involves: 129S1/Sv * 129X1/SvJ * ICR J:76174
NOT Hap1tm1Xjl/Hap1tm1Xjl   involves: 129S6/SvEvTac * Black Swiss J:84682
NOT Htttm1Hay/Htttm1Hay   involves: C57BL/6J J:25941
NOT Htttm1Mem/Htttm7Mem   involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1 J:44391
NOT Htttm1Mem/Htttm1Mem   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 J:27183
NOT Htttm1Szi/Htttm1Szi   either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * MF1) J:29267
NOT Htttm2Mem/Htttm2Mem   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:99425
NOT Htttm3Mem/Htttm3Mem   involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1 J:44391
NOT Htttm3Mem/Htttm3Mem   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:99425
NOT Htttm6Mem/Htttm8Mem   involves: 129S1/Sv * 129X1/SvJ * Swiss Webster J:72915
NOT Htttm7Mem/Htttm7Mem   involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1 J:44391

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