Human Disease and Mouse Model Detail

Human Disease

Term: Lissencephaly 1; LIS1
OMIM ID: 607432

Synonyms

Lissencephaly Sequence, Isolated; ILS

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

...both mouse and human orthologous genes.

Dcx	DCX
Tuba1a	TUBA1A
Ywhae	YWHAE

...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 disease where etiologies involve orthologs.¹
Pafah1b1^tm1Awb/Pafah1b1^tm2Awb		involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss	J:49531
Pafah1b1^tm1Awb/Pafah1b1⁺		involves: 129S6/SvEvTac * NIH Black Swiss	J:49531, J:59817
Pafah1b1^tm1Awb/Pafah1b1⁺ Ywhae^tm1Awb/Ywhae⁺		either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)	J:84075
Pafah1b1^tm1Or/Pafah1b1⁺		Not Specified	J:69631
Pafah1b1^tm2.2Awb/Pafah1b1⁺		involves: 129S6/SvEvTac * NIH Black Swiss	J:49531
Models with phenotypic similarity to human disease where etiologies are distinct.²
Dcx^tm1.2Ffr/Y		either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	J:108229
Tuba1a^Jna/Tuba1a⁺		involves: BALB/cAnN * C3H/HeH	J:117881

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12