Human Disease and Mouse Model Detail

Human Disease

Term: Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH
OMIM ID: 241530

Synonyms

Hypercalciuric Rickets

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...

Slc34a3

SLC34A3

...both mouse and human orthologous genes.

Slc34a1

SLC34A1

...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
Slc34a1^tm1Hten/Slc34a1^tm1Hten Slc34a3^tm1Kimi/Slc34a3^tm1Kimi		B6.129-Slc34a3^tm1Kimi Slc34a1^tm1Hten	J:152195
Models with phenotypic similarity to human disease where etiologies are distinct.²
Slc34a1^tm1Hten/Slc34a1^tm1Hten		involves: 129S2/SvPas * C57BL/6J	J:47637

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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