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Human Disease and Mouse Model Detail
Human Disease

Term: Diaphragmatic Hernia, Congenital
OMIM ID: 142340

Synonyms Diaphragmatic Defect, Congenital; Diaphragm, Unilateral Agenesis of; Dih; Hernia, Congenital Diaphragmatic; HCD; CDH
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...
     
b2b1554Clo none identified
Gata4 GATA4
Nkx3-2 NKX3-2
Nr2f2 NR2F2
Pdgfra PDGFRA
Slit3 SLIT3
Sox7 SOX7
Zfpm2 ZFPM2
  mouse...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
b2b1554Clo/b2b1554Clo   C57BL/6J-b2b1554Clo J:175213
Gata4tm1.2Wtp/Gata4+   B6.Cg-Gata4tm1.2Wtp J:117367
Nkx3-2tm1(cre)Tsa/Nkx3-2+
Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa		 2 involves: 129S7/SvEvBrd * C57BL/6 J:103437
Pdgfratm2Sor/Pdgfratm2Sor   involves: 129S4/SvJaeSor * C57BL/6 J:160875
Slit3Gt(OST106158)Lex/Slit3Gt(OST106158)Lex   involves: 129S5/SvEvBrd * C57BL/6 J:86149
Slit3tm1.1Dor/Slit3tm1.1Dor   involves: 129X1/SvJ * C57BL/6J J:83292
Slit3tm1Dor/Slit3tm1Dor   involves: 129X1/SvJ * C57BL/6J J:83292
Sox7tm1.1Dsco/Sox7+   involves: 129/SvEv * C57BL/6 J:187416
Zfpm2lil/Zfpm2lil   involves: A/J J:100119

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.
2Conditionally 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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory