pulmonary emphysema Disease Ontology Browser

Disease Ontology Browser

pulmonary emphysema (DOID:9675)
Alliance: disease page
Alt IDs: OMIM:130700, ICD10CM:J43.8, ICD9CM:492.8, UMLS_CUI:C0029607
Definition: A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.

Term Browser
Genes (21)
Models (23)

Disease References using Mouse Models (21)

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Bloc1s6

Allelic Composition	Genetic Background	Reference	Phenotypes
Bloc1s6pa/Bloc1s6pa	B6.Cg-Bloc1s6^pa/J	J:4098	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Fstl1

Allelic Composition	Genetic Background	Reference	Phenotypes
Fstl1tm1Ajn/Fstl1tm1Ajn	B6.Cg-Fstl1^tm1Ajn	J:322116	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Fut8

Allelic Composition	Genetic Background	Reference	Phenotypes
Fut8tm1Nta/Fut8tm1Nta	involves: 129S2/SvPas	J:102932	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Itgb6

Allelic Composition	Genetic Background	Reference	Phenotypes
Itgb6tm1Des/Itgb6tm1Des	involves: 129T2/SvEms	J:89578	View

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

Allelic Composition	Genetic Background	Reference	Phenotypes
Itgb6tm1Des/Itgb6tm1Des Mmp12tm1Sds/Mmp12tm1Sds	involves: 129/Sv * 129T2/SvEms	J:89578	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Jun

Allelic Composition	Genetic Background	Reference	Phenotypes
Juntm4Wag/Juntm4Wag Tg(Sftpc-cre)1Blh/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	J:179883	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Kl

Allelic Composition	Genetic Background	Reference	Phenotypes
Klkl/Klkl	either: C.Cg-Kl^kl or (involves: C3H/HeJ * C57BL/6J)	J:44109	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Mus81

Allelic Composition	Genetic Background	Reference	Phenotypes
Mus81tm1Esse/Mus81tm1Esse	involves: 129P2/OlaHsd * C57BL/6J	J:222498	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Ptma

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Actb-Ptma)T12Clwu/Tg(Actb-Ptma)T12Clwu	involves: FVB/N	J:270215	View
Tg(Actb-Ptma)T12Clwu/0	involves: FVB/N	J:270215	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Smo

Allelic Composition	Genetic Background	Reference	Phenotypes
Gli2tm1(cre/ERT2)Tipe/Gli2+ Gt(ROSA)26Sortm1(Smo/EYFP)Amc/Gt(ROSA)26Sor+	involves: 129X1/SvJ	J:264185	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Gene: Tlr4

Allelic Composition	Genetic Background	Reference	Phenotypes
Tlr4tm1Aki/Tlr4tm1Aki	B6.129P2-Tlr4^tm1Aki	J:114985	View

Mouse Models

Human Disease Modeled: pulmonary emphysema

Allelic Composition	Genetic Background	Reference	Phenotypes
Serpina1em#Chmu/Serpina1em#Chmu	involves: C57BL/6J	J:259615	View
Serpina1em2Chmu/Serpina1em2Chmu	involves: C57BL/6J	J:259615	View
Serpina1em3Chmu/Serpina1em3Chmu	involves: C57BL/6J	J:259615	View
Serpina1em1Chmu/Serpina1em1Chmu	involves: C57BL/6J	J:259615	View

Mouse Models

Human Disease Modeled: pulmonary emphysema

Allelic Composition	Genetic Background	Reference	Phenotypes
Fbn1Tsk/Fbn1+ Tgfb1tm1N/Tgfb1+	involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2	J:68448	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Complex/Cluster/Region: Serpina1

Allelic Composition	Genetic Background	Reference	Phenotypes
Serpina1em#Chmu/Serpina1em#Chmu	involves: C57BL/6J	J:259615	View
Serpina1em1Chmu/Serpina1em1Chmu	involves: C57BL/6J	J:259615	View
Serpina1em2Chmu/Serpina1em2Chmu	involves: C57BL/6J	J:259615	View
Serpina1em3Chmu/Serpina1em3Chmu	involves: C57BL/6J	J:259615	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Transgene: Tg(Actb-Ptma)T12Clwu

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Actb-Ptma)T12Clwu/Tg(Actb-Ptma)T12Clwu	involves: FVB/N	J:270215	View
Tg(Actb-Ptma)T12Clwu/0	involves: FVB/N	J:270215	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Transgene: Tg(HP-MMP1a)34-1Cha

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(HP-MMP1a)34-1Cha/Tg(HP-MMP1a)34-1Cha	involves: C57BL/6J * CBA/J	J:164058	View
Tg(HP-MMP1a)34-1Cha/0	involves: C57BL/6J * CBA/J	J:164058	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Transgene: Tg(Msr1-MMP9)#Apar

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Msr1-MMP9)#Apar/0	B6.Cg-Tg(Msr1-MMP9)#Apar	J:136830	View

Mouse Models

Human Disease Modeled: pulmonary emphysema
Associated Mouse Transgene: Tg(tetO-PLAGL2)P3Ysy

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(SFTPC-rtTA)5Jaw/0 Tg(tetO-PLAGL2)P3Ysy/0	involves: FVB/N	J:152422	View

Mouse Models

Human Disease Modeled: pulmonary emphysema

Allelic Composition	Genetic Background	Reference	Phenotypes
Fbn1Tsk/Fbn1+	B6.Cg-Fbn1^Tsk	J:30961, J:6566, J:15018, J:1326, J:68448	View

Mouse Models

Human Disease Modeled: pulmonary emphysema

Allelic Composition	Genetic Background	Reference	Phenotypes
Fbn1Tsk/Fbn1+ Il4ratm1Sz/Il4ratm1Sz	involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2	J:68448	View

Mouse Models

Human Disease Modeled: pulmonary emphysema

Allelic Composition	Genetic Background	Reference	Phenotypes
Fbn1Tsk/Fbn1+ Il4ratm1Sz/Il4ra+	involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2	J:68448	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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/25/2025 MGI 6.24