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Human Disease and Mouse Model Detail
Human Disease

Term: Miller-Dieker Lissencephaly Syndrome; MDLS
OMIM ID: 247200

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...
     
Pafah1b1 PAFAH1B1
Ywhae YWHAE
  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
Pafah1b1tm1Awb/Pafah1b1tm2Awb   involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss J:49531
Pafah1b1tm1Awb/Pafah1b1+   involves: 129S6/SvEvTac * NIH Black Swiss J:49531, J:59817
Pafah1b1tm1Awb/Pafah1b1+
Ywhaetm1Awb/Ywhae+		   either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss) J:84075
Pafah1b1tm1Or/Pafah1b1+   Not Specified J:69631
Pafah1b1tm2.2Awb/Pafah1b1+   involves: 129S6/SvEvTac * NIH Black Swiss J:49531
Ywhaetm1Awb/Ywhaetm1Awb   either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss) J:84075

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