Human Disease and Mouse Model Detail

Human Disease

Term: Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; HDR
OMIM ID: 146255

Synonyms

Barakat Syndrome; Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome; HDRS; Nephrosis, Nerve Deafness, and Hypoparathyroidism

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...

Gata3

GATA3

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Gata3^tm1Gsv/Gata3⁺		involves: 129S7/SvEvBrd * C57BL/6 * FVB/N	J:116235
Gata3^tm1Gsv/Gata3⁺		FVB.129(B6)-Gata3^tm1Gsv	J:104653

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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