Human Disease and Mouse Model Detail

Human Disease

Term: Branchiootorenal Syndrome 1; BOR1
OMIM ID: 113650

Synonyms

Branchiootorenal Dysplasia; Melnick-Fraser Syndrome

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...

Eya1

EYA1

...both mouse and human orthologous genes.

Six1

SIX1

...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
Eya1^bor/Eya1^bor		C3H/HeJ-Eya1^bor	J:54408
Eya1^tm1Rilm/Eya1^tm1Rilm		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	J:57313
Eya1^tm1Rilm/Eya1⁺		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)	J:57313
Eya1^tm1Rilm/Eya1⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:57313
Models with phenotypic similarity to human disease where etiologies are distinct.²
Six1^Cwe/Six1^Cwe		C3HeB/FeJ-Six1^Cwe	J:149467

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human 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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