Human Disease and Mouse Model Detail

Human Disease

Term: Bardet-Biedl Syndrome; BBS
OMIM ID: 209900

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...

...both mouse and human orthologous genes.

...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
Bbs1^Gt1Nk/Bbs1^Gt1Nk		involves: 129S7/SvEvBrd * C57BL/6J	J:92950
Bbs1^tm1Vcs/Bbs1^tm1Vcs		involves: 129S1/Sv * 129X1/SvJ	J:128532
Bbs2^tm1Vcs/Bbs2^tm1Vcs		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	J:94467
Bbs4^Gt1Nk/Bbs4^Gt1Nk		involves: 129S7/SvEvBrd * C57BL/6J	J:92950
Bbs4^Gt1Nk/Bbs4^Gt1Nk		involves: 129S7/SvEvBrd	J:134093
Bbs4^tm1Vcs/Bbs4^tm1Vcs		involves: 129S1/Sv * 129X1/SvJ	J:94467
Bbs4^tm1Vcs/Bbs4^tm1Vcs		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:90812
Mkks^tm1Vcs/Mkks^tm1Vcs		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	J:99276
Ttc8^tm1Reed/Ttc8^tm1Reed		involves: 129	J:173465

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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