Human Disease and Mouse Model Detail

Human Disease

Term: Ehlers-Danlos Syndrome, Type I
OMIM ID: 130000

Synonyms

Eds I; EDS1; Ehlers-Danlos Syndrome, Gravis Type; Ehlers-Danlos Syndrome, Severe Classic Type

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...

Col5a1

COL5A1

...both mouse and human orthologous genes.

Fmod	FMOD
Lum	LUM

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

Col1a1	COL1A1
Col5a2	COL5A2

...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 involve orthologs.¹
Col5a1^tm1Rjw/Col5a1⁺		involves: 129S6/SvEvTac * C57BL/6	J:112728
Col5a1^tm1Rjw/Col5a1⁺		either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)	J:113133
Models with phenotypic similarity to human disease where etiologies are distinct.²
Fmod^tm1Aol/Fmod^tm1Aol Lum^tm1Chak/Lum^tm1Chak		involves: 129S1/Sv * 129X1/SvJ * CD-1	J:79115
Lum^tm1Chak/Lum^tm1Chak		involves: CD-1	J:48068

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