Human Disease and Mouse Model Detail

Human Disease

Term: Restrictive Dermopathy, Lethal
OMIM ID: 275210

Synonyms

Fetal Hypokinesia Sequence Due to Restrictive Dermopathy; Hyperkeratosis-Contracture Syndrome; Tight Skin Contracture Syndrome, Lethal

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...

Fst	FST
Slc27a4	SLC27A4

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

Lmna	LMNA
Zmpste24	ZMPSTE24

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Fst^tm1Zuk/Fst^tm1Zuk		involves: 129S7/SvEvBrd	J:23925
Fst^tm1Zuk/Fst^tm1Zuk		involves: 129S7/SvEvBrd * C57BL/6	J:23925
Slc27a4^tm1Wsr/Slc27a4^tm1Wsr		involves: 129P2/OlaHsd * C57BL/6	J:84096
Slc27a4^wrfr/Slc27a4^wrfr		involves: 129 * C57BL/6J	J:83282

¹Human 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
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