Human Disease and Mouse Model Detail

Human Disease

Term: Pulmonary Hypertension, Primary, 1; PPH1
OMIM ID: 178600

Synonyms

PHT

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...

Bmpr2	BMPR2
Smad9	SMAD9

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(Tagln-rtTA)E1Jwst		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(tetO-Bmpr2*R899X)#Jwst

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl Tg(Acvrl1-cre)L1Spo/0	3	involves: 129S4/SvJae * FVB	J:158116
Bmpr2^tm1Kmi/Bmpr2⁺		involves: 129S4/SvJae * C57BL/6J	J:117167
Smad9^tm3Jfm/Smad9^tm3Jfm		involves: 129S4/SvJaeSor	J:150213
Models involving transgenes or other mutation types.²
Tg(Tagln-rtTA)E1Jwst/0 Tg(tetO-Bmpr2*R899X)#Jwst/0		involves: FVB/N	J:164503

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³Conditionally targeted allele(s)

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