Human Disease and Mouse Model Detail

Human Disease

Term: Biotinidase Deficiency
OMIM ID: 253260

Synonyms

BTD Deficiency; Multiple Carboxylase Deficiency, Juvenile-Onset; Multiple Carboxylase Deficiency, Late-Onset

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...

Btd

BTD

...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 diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Btd^tm1Bwol/Btd^tm1Bwol		B6.Cg-Btd^tm1Bwol	J:168391

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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