Human Disease and Mouse Model Detail

Human Disease

Term: Pendred Syndrome; PDS
OMIM ID: 274600

Synonyms

Deafness with Goiter; Goiter-Deafness Syndrome; Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2B; Thyroid Dyshormonogenesis 2B; TDH2B; Thyroid Hormonogenesis, Genetic Defect In, 2B

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...

Foxi1	FOXI1
Slc26a4	SLC26A4

...both mouse and human orthologous genes.

Kcnj10

KCNJ10

...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
Foxi1^tm1Sven/Foxi1^tm1Sven		involves: CD-1	J:83207
Slc26a4^pdsm/Slc26a4^pdsm		BXA7/PgnJ-Slc26a4^pdsm/J	J:121997
Slc26a4^tm1Egr/Slc26a4^tm1Egr		involves: 129S6/SvEvTac	J:101834, J:116301, J:121442
Slc26a4^tm1Egr/Slc26a4^tm1Egr		either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)	J:67072

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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