Human Disease and Mouse Model Detail

Human Disease

Term: D-Bifunctional Protein Deficiency
OMIM ID: 261515

Synonyms

17-beta-Hydroxysteroid Dehydrogenase IV Deficiency; DBP Deficiency; PBFE Deficiency; Peroxisomal Bifunctional Enzyme 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...

Hsd17b4

HSD17B4

...both mouse and human orthologous genes.

Ehhadh

EHHADH

...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
Ehhadh^tm1Jkr/Ehhadh^tm1Jkr Hsd17b4^tm1Baes/Hsd17b4^tm1Baes		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J	J:89945, J:99925
Hsd17b4^tm1Baes/Hsd17b4^tm1Baes		involves: 129S1/Sv * 129X1/SvJ	J:62314, J:99925

¹Human genes are associated with this disease. Mouse model genotypes 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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