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Human Disease and Mouse Model Detail
Human Disease

Term: Tuberous Sclerosis 1; TSC1
OMIM ID: 191100

Synonyms Tuberose Sclerosis; TS; Tuberous Sclerosis Complex; TSC
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...
Tsc1 TSC1
  mousehuman...both mouse and human orthologous genes.
     
Myl2 MYL2
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Myl2tm1(cre)Krc/Myl2+
Tsc1tm1Djk/Tsc1tm1Djk		 2 involves: 129S4/SvJae J:96138
Tsc1tm1.1Djk/Tsc1+   either: 129S4/SvJae-Tsc1tm1Djk or (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * C57BL/6J) J:75243
Tsc1tm1Chdl/Tsc1+   involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd J:99796
Tsc1tm1Chdl/Tsc1+   involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd J:99796
Tsc1tm1Chdl/Tsc1+   involves: 129P2/OlaHsd * C57BL/6JOlaHsd J:99796
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)8Gtm/0		 2 involves: 129S4/SvJae * C57BL/6 * CBA J:134889, J:167241
Tsc1tm1Djk/Tsc1tm1.1Djk
Tg(Syn1-cre)671Jxm/0		 2 involves: 129S4/SvJae * C57BL/6 * CBA J:136366
Tsc1tm1Hin/Tsc1+   involves: 129S4/SvJae * C57BL/6J J:70463

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Conditionally 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