Human Disease and Mouse Model Detail

Human Disease

Term: Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
OMIM ID: 236200

Synonyms

Cystathionine Beta-Synthase Deficiency; Homocystinuria with or without Response to Pyridoxine

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...

Cbs

CBS

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(CBS)11181Eri

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cbs^tm1Unc/Cbs^tm1Unc		involves: 129P2/OlaHsd * C57BL/6J	J:105571
Cbs^tm1Unc/Cbs^tm1Unc Tg(CBS)11181Eri/0		involves: 129P2/OlaHsd * C57BL/6J	J:165612
Models involving transgenes or other mutation types.²
Cbs^tm1Unc/Cbs^tm1Unc Tg(CBS)11181Eri/0		involves: 129P2/OlaHsd * C57BL/6J	J:165612

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

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