Human Disease and Mouse Model Detail

Human Disease

Term: Renal Tubular Acidosis, Distal, Autosomal Recessive; RTADR
OMIM ID: 602722

Synonyms

RTA, Distal, Autosomal Recessive

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...

Atp6v0a4

ATP6V0A4

...both mouse and human orthologous genes.

Slc4a1

SLC4A1

...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
Atp6v0a4^tm1.1Fekf/Atp6v0a4^tm1.1Fekf		involves: C57BL/6	J:188593
Models with phenotypic similarity to human disease where etiologies are distinct.²
Slc4a1^tm1Llp/Slc4a1^tm1Llp		involves: 129S4/SvJae * C57BL/6J	J:148154

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
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12