progeria Disease Ontology Browser

Disease Ontology Browser

progeria (DOID:3911)
Alliance: disease page
Synonyms: HGPS; Hutchinson Gilford syndrome; Hutchinson-Gilford disease; Hutchinson-Gilford Progeria syndrome
Alt IDs: OMIM:176670, ICD10CM:E34.8, MESH:D011371, NCI:C34951, ORDO:740, UMLS_CUI:C0033300
Definition: A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.

Term Browser
Genes (6)
Models (19)

Disease References using Mouse Models (32)

Mouse Models

Human Disease Modeled: progeria
Associated Mouse Gene: Lmna

Allelic Composition	Genetic Background	Reference	Phenotypes
Lmnatm2Stw/Lmnatm2Stw	involves: 129S1/Sv	J:83382	View
Lmnatm1.1Otin/Lmnatm1.1Otin	involves: 129P2/OlaHsd * C57BL/6	J:177575, J:177632, J:211388	View
Lmnatm12Lgf/Lmnatm12Lgf	involves: 129P2/OlaHsd * C57BL/6	J:234711	View
Lmnaem1Fenz/Lmna+	C57BL/6-Lmna^em1Fenz	J:338760	View
Lmnatm1Lgf/Lmna+	involves: 129P2/OlaHsd * C57BL/6	J:113119	View
LmnaDhe/Lmna+	B6(D2)-Lmna^Dhe/TyGrsrJ	J:171665	View
Lmnatm1.1Otin/Lmnatm1.1Otin	involves: 129P2/OlaHsd * C57BL/6NTac	J:261974	View
Lmnatm1.1Otin/Lmna+	involves: 129P2/OlaHsd * C57BL/6	J:211388	View
Lmnatm1.1Otin/Lmna+	involves: 129P2/OlaHsd * C57BL/6NTac	J:261974	View
Lmnatm1.1Otin/Lmnatm1.1Otin Nat10tm1a(KOMP)Wtsi/Nat10+	involves: 129P2/OlaHsd * C57BL/6NTac	J:261974	View
Lmnatm1.1Otin/Lmna+ Nat10tm1a(KOMP)Wtsi/Nat10+	involves: 129P2/OlaHsd * C57BL/6NTac	J:261974	View
Lmnatm1Bliu/Lmna+ Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	J:287256	View

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Lmnatm5Lgf/Lmnatm5Lgf	involves: 129P2/OlaHsd * C57BL/6	J:160705	View
Lmnatm8Lgf/Lmnatm8Lgf	involves: 129P2/OlaHsd	J:167229	View

Mouse Models

Human Disease Modeled: progeria
Associated Mouse Gene: Sirt6

Allelic Composition	Genetic Background	Reference	Phenotypes
Sirt6tm1Fwa/Sirt6tm1Fwa	involves: 129S6/SvEvTac * 129X1/SvJ	J:112817	View

Mouse Models

Human Disease Modeled: progeria
Associated Mouse Gene: Vcpip1

Allelic Composition	Genetic Background	Reference	Phenotypes
Vcpip1em1Zlou/Vcpip1em1Zlou	C57BL/6NHsd-Vcpip1^em1Zlou	J:297179	View

Mouse Models

Human Disease Modeled: progeria
Associated Mouse Gene: Zmpste24

Allelic Composition	Genetic Background	Reference	Phenotypes
Zmpste24tm1Sgy/Zmpste24tm1Sgy	B6.129S4-Zmpste24^tm1Sgy	J:106706	View
Zmpste24tm1Otin/Zmpste24tm1Otin	involves: 129P2/OlaHsd	J:164373	View
Zmpste24tm1Sgy/Zmpste24tm1Sgy	involves: 129S4/SvJae * C57BL/6	J:95274	View

Mouse Models

Human Disease Modeled: progeria
Associated Mouse Transgene: Tg(LMNA*G608G)HClns

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(LMNA*G608G)HClns/?	C57BL/6-Tg(LMNA*G608G)HClns/J	J:107176	View

Mouse Models

Human Disease Modeled: progeria
Associated Mouse Transgene: Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(KRT5-tTA)1216Glk/0 Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer/0	involves: FVB/N	J:145312	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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