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Human Disease and Mouse Model Detail
Human Disease

Term: Albinism, Ocular, with Sensorineural Deafness
OMIM ID: 103470

Synonyms Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive; WS2-OA
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...
Mitf MITF
  mousehuman...both mouse and human orthologous genes.
     
Tyr TYR
  human...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
MitfMi-Crc/MitfMi-Crc   CBA/CaCrc J:83500
MitfMi-Crc/Mitf+   CBA/CaCrc J:83500
Mitfmi-enu122/Mitfmi-enu122   involves: 102 * C3H J:46254
Mitfmi-enu122/Mitf+   involves: 102 * C3H J:46254
MitfMi-H/MitfMi-H   involves: BALB/cAnN * C3H/HeN J:75964
MitfMi-H/MitfRorp   involves: BALB/cAnN * C3H/HeN J:75964
MitfMi-H/Mitf+   involves: BALB/cAnN * C3H/HeN J:75964
MitfMi-wh/Mitfmi-x   NZB/Mac J:83501
MitfMi-wh/MitfMi-wh   involves: C57BL * DBA J:13058
MitfMi-wh/Mitf+   involves: C57BL * DBA J:13058
Mitfmi-x/Mitfmi-x   NZB/Mac J:83501
MitfMi/MitfMi   Not Specified J:30758
MitfRorp/Mitf+   involves: BALB/cAnN * C3H/HeN J:75964
MitfRorp/MitfRorp   involves: BALB/cAnN * C3H/HeN J:75964

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory