Human Disease and Mouse Model Detail

Human Disease

Term: Hutchinson-Gilford Progeria Syndrome; HGPS
OMIM ID: 176670

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...

Lmna

LMNA

...both mouse and human orthologous genes.

Zmpste24

ZMPSTE24

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

Transgenes and
other mutation types

Tg(KRT5-tTA)1216Glk		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(LMNA*G608G)HClns
Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Lmna^Dhe/Lmna⁺			B6(D2)-Lmna^Dhe/TyGrsrJ	J:171665
Lmna^tm1.1Otin/Lmna^tm1.1Otin			involves: 129P2/OlaHsd * C57BL/6	J:177575, J:177632
Lmna^tm1Lgf/Lmna⁺			involves: 129P2/OlaHsd * C57BL/6	J:113119
Lmna^tm2Stw/Lmna^tm2Stw			involves: 129S1/Sv	J:83382
Models with phenotypic similarity to human disease where etiologies are distinct.²
Zmpste24^tm1Lotn/Zmpste24^tm1Lotn			involves: 129P2/OlaHsd	J:164373
Zmpste24^tm1Sgy/Zmpste24^tm1Sgy			involves: 129S4/SvJae * C57BL/6	J:95274
Zmpste24^tm1Sgy/Zmpste24^tm1Sgy			B6.129S4-Zmpste24^tm1Sgy	J:106706
Models involving transgenes or other mutation types.³
Tg(KRT5-tTA)1216Glk/0 Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer/0			involves: FVB/N	J:145312
Tg(LMNA*G608G)HClns/?			C57BL/6-Tg(LMNA*G608G)HClns/J	J:107176
No similarity to the expected human disease phenotype was found.⁴
NOT	Lmna^tm5Lgf/Lmna^tm5Lgf		involves: 129P2/OlaHsd * C57BL/6	J:160705
NOT	Lmna^tm8Lgf/Lmna^tm8Lgf		involves: 129P2/OlaHsd	J:167229

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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