Human Disease and Mouse Model Detail

Human Disease

Term: Li-Fraumeni Syndrome 1; LFS1
OMIM ID: 151623

Synonyms

Sarcoma Family Syndrome of Li and Fraumeni

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...

Trp53

TP53

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Trp53^tm1Tyj/Trp53⁺		involves: 129S2/SvPas * C57BL/6	J:17728
Trp53^tm1Tyj/Trp53^tm3.1Tyj		involves: 129S2/SvPas * 129S4/SvJae	J:95316
Trp53^tm1Tyj/Trp53⁺		involves: 129S2/SvPas	J:95316
Trp53^tm1Tyj/Trp53^tm2.1Tyj		involves: 129S2/SvPas * 129S4/SvJae	J:95316
Trp53^tm1Tyj/Trp53^tm1Tyj		involves: 129S2/SvPas	J:95316
Trp53^tm2.1Tyj/Trp53⁺		involves: 129S4/SvJae	J:95316
Trp53^tm3.1Glo/Trp53⁺		B6.129S7-Trp53^tm3.1Glo	J:95318
Trp53^tm3.1Tyj/Trp53⁺		involves: 129S4/SvJae	J:95316

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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