Human Disease and Mouse Model Detail

Human Disease

Term: Hypomagnesemia 3, Renal; HOMG3
OMIM ID: 248250

Synonyms

Hypomagnesemia, Isolated Renal; Hypomagnesemia, Primary, Due to Defect in Renal Tubular Transport of Magnesium

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...

CLDN16

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models involving transgenes or other mutation types.¹
Tg(RNU6-RNAi:Cldn16)551Dago/0		involves: C57BL/6 * DBA/2	J:122766

¹Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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