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Human Disease and Mouse Model Detail
Human Disease

Term: Atrioventricular Septal Defect; AVSD
OMIM ID: 606215

Synonyms Atrioventricular Canal Defect; AVCD; Avc Defect
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...
     
avc3 none identified
avc4 none identified
avc6 none identified
Bmp4 BMP4
Cyr61 CYR61
Ift172 IFT172
l11Jus16 none identified
pta none identified
  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
avc3/avc3   involves: C57BL/6J * FVB/N J:163196
avc4/avc4   involves: C57BL/6J * FVB/N J:163196
avc6/avc6   involves: C57BL/6J * FVB/N J:163196
Bmp4tm1Blh/Bmp4tm3.1Blh
Tg(Tnnt2-cre)5Blh/0		 2 involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR J:86001
Bmp4tm3.1Blh/Bmp4tm3.1Blh
Tg(Tnnt2-cre)5Blh/0		 2 involves: 129S6/SvEvTac * C57BL/6 * DBA/2 * ICR J:86001
Cyr61tm1Lfl/Cyr61tm1Lfl   involves: 129S4/SvJae * C57BL/6J J:126490
Ift172avc1/Ift172avc1   involves: C57BL/6J * FVB/N J:163196
l11Jus16/l11Jus16   involves: C57BL/6J * FVB/N J:163196
pta/pta   C57BL/6J-pta J:94456

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