Human Disease and Mouse Model Detail

Human Disease

Term: Respiratory Distress Syndrome in Premature Infants
OMIM ID: 267450

Synonyms

Hyaline Membrane Disease, Formerly; Rds of Prematurity

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...

Epas1	EPAS1
Ndst1	NDST1
Vegfa	VEGFA

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Epas1^tm1Pec/Epas1^tm1Pec		involves: 129/Sv * Swiss	J:77480
Ndst1^tm1Ekf/Ndst1^tm1Ekf		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:63996
Ndst1^tm1Hgx/Ndst1^tm1Hgx		involves: 129S4/SvJae * C57BL/6	J:60280
Vegfa^tm1Pec/Vegfa^tm1Pec		involves: 129S1/Sv * 129X1/SvJ	J:77480

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

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