Human Disease and Mouse Model Detail

Human Disease

Term: Ehlers-Danlos Syndrome, Progeroid Form
OMIM ID: 130070

Synonyms

Dermatan Sulfate Proteoglycan; Galactosyltransferase I Deficiency; PDS, Defective Biosynthesis of; Proteodermatan Sulfate, Defective Biosynthesis of; XGPT Deficiency; Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

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...

Bgn	BGN
Dcn	DCN

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

B4galt7

B4GALT7

...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
Bgn^tm1Mfy/Y Dcn^tm1Ioz/Dcn^tm1Ioz		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	J:91512
Bgn^tm1Mfy/Bgn^tm1Mfy Dcn^tm1Ioz/Dcn^tm1Ioz		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	J:91512

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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