Human Disease and Mouse Model Detail

Human Disease

Term: Tuberous Sclerosis 2; TSC2
OMIM ID: 613254

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...

Tsc2

TSC2

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Ifng

IFNG

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Tg(GFAP-cre)8Gtm/0 Tsc2^tm1.1Mjg/Tsc2^tm1.1Mjg	2	involves: 129X1/SvJ * 129S1/Sv * C57BL/6 * CBA	J:167241
Tg(Pcp2-cre)2Mpin/0 Tsc2^tm1.1Mjg/Tsc2^tm1.1Mjg	2	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:174327
Tg(Pcp2-cre)2Mpin/0 Tsc2^tm1.1Mjg/Tsc2^tm1.2Mjg	2	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:174327
Tsc2^tm1Djk/Tsc2⁺		involves: 129S4/SvJae * C57BL/6NCrl	J:138621
Tsc2^tm1Djk/Tsc2⁺		either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J)	J:57631
Tsc2^tm1Tno/Tsc2⁺		involves: 129S4/SvJae * C57BL/6J	J:52464
Tsc2^tm2.2Djk/Tsc2⁺		involves: 129S4/SvJae * C57BL/6	J:149326

¹Human genes are associated with this disease. Mouse model genotypes do not 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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