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Human Disease and Mouse Model Detail
Human Disease

Term: Frontotemporal Dementia; FTD
OMIM ID: 600274

Synonyms Dementia, Frontotemporal, with Parkinsonism; Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC; Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS; Frontotemporal Dementia with Parkinsonism; Frontotemporal Lobar Degeneration with Tau Inclusions; Frontotemporal Lobe Dementia; FLDEM; FTDP17; Ftld with Tau Inclusions; Multiple System Tauopathy with Presenile Dementia; MSTD; Wilhelmsen-Lynch Disease; WLD
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...
     
Mapt MAPT
Psen1 PSEN1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(Camk2a-MAPT*R406W)748Atak   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Prnp-MAPT)43Vle
Tg(Prnp-MAPT*P301L)JNPL3Hlmc
Tg(Prnp-TARDBP*A315T)95Balo
Tg(Thy1-MAPT*K369I)K3Gotz
Tg(Thy1-MAPT*V337M)1Godt
Tg(Thy1-TARDBP)4Singh
Tg(Thy1-TARDBP)6Singh
Tg(Tuba1-MAPT)14Vle

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models involving transgenes or other mutation types.1
Tg(Camk2a-MAPT*R406W)748Atak/0   involves: C57BL/6 * SJL J:100958
Tg(Prnp-MAPT)43Vle/0   involves: C57BL/6 * DBA/2 J:61052
Tg(Prnp-MAPT*P301L)JNPL3Hlmc/?   involves: C57BL/6 * DBA/2 J:63887
Tg(Prnp-TARDBP*A315T)95Balo/0   involves: C57BL/6 * CBA J:153197
Tg(Thy1-MAPT*K369I)K3Gotz/0   B6.Cg-Tg(Thy1-MAPT*K369I)K3Gotz J:143439
Tg(Thy1-MAPT*V337M)1Godt/0   involves: C57BL/6J * CBA/Ca J:143018
Tg(Thy1-TARDBP)4Singh/0   involves: C57BL/6J * SJL/J J:157550
Tg(Thy1-TARDBP)4Singh/Tg(Thy1-TARDBP)4Singh   involves: C57BL/6J * SJL/J J:157550
Tg(Thy1-TARDBP)6Singh/Tg(Thy1-TARDBP)6Singh   involves: C57BL/6 * C57BL/6J * SJL J:157550
Tg(Tuba1-MAPT)14Vle/0   involves: C57BL/6 * SJL J:78400

1Models 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