Human Disease and Mouse Model Detail

Human Disease

Term: Epilepsy, Familial Temporal Lobe, 1; ETL1
OMIM ID: 600512

Synonyms

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; ADLTE; Epilepsy, Partial, with Auditory Features; ADPEAF

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...

Lgi1

LGI1

...both mouse and human orthologous genes.

Tyr

TYR

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

Transgenes and
other mutation types

Tg(Lgi1*)#Mpan

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Lgi1^tm1.1Ics/Lgi1^tm1.1Ics		involves: 129S2/SvPas * BALB/c * C57BL/6	J:182795
Lgi1^tm1.1Jkc/Lgi1^tm1.1Jkc Tyr^c-Brd/Tyr^c-Brd		B6.Cg-Tyr^c-Brd Lgi1^tm1.1Jkc	J:158715
Lgi1^tm1Mafu/Lgi1^tm1Mafu		involves: 129S6/SvEvTac * C57BL/6	J:157578
Models involving transgenes or other mutation types.²
Tg(Lgi1*)#Mpan/0		Not Specified	J:154129

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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