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Human Disease and Mouse Model Detail
Human Disease

Term: Sandhoff Disease
OMIM ID: 268800

Synonyms GM2-Gangliosidosis, Type II
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...
Hexb HEXB
  mousehuman...both mouse and human orthologous genes.
     
Ccl3 CCL3
Fcer1g FCER1G
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Ccl3tm1Unc/Ccl3tm1Unc
Hexbtm1Rlp/Hexbtm1Rlp
  involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:90687
Ccl3tm1Unc/Ccl3+
Hexbtm1Rlp/Hexbtm1Rlp
  involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:90687
Fcer1gtm1Rav/Fcer1gtm1Rav
Hexbtm1Rlp/Hexbtm1Rlp
  involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:87617
Hexbtm1Grv/Hexbtm1Grv   either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J) J:30899
Hexbtm1Rlp/Hexbtm1Rlp   involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 J:87617
Hexbtm1Rlp/Hexbtm1Rlp
Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
  involves: 129S4/SvJae * C57BL/6 * CBA J:190450
Hexbtm1Rlp/Hexbtm1Rlp
Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
  involves: 129S4/SvJae * C57BL/6 * CBA J:190450
Hexbtm1Rlp/Hexbtm1Rlp   involves: 129S4/SvJae * C57BL/6 J:29268, J:190450
Models involving transgenes or other mutation types.2
Hexbtm1Rlp/Hexbtm1Rlp
Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
  involves: 129S4/SvJae * C57BL/6 * CBA J:190450
Hexbtm1Rlp/Hexbtm1Rlp
Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
  involves: 129S4/SvJae * C57BL/6 * CBA J:190450

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory