Human Disease and Mouse Model Detail

Human Disease

Term: Diabetes Insipidus, Nephrogenic, Autosomal
OMIM ID: 125800

Synonyms

Diabetes Insipidus, Nephrogenic, Type II

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...

Aqp2

AQP2

...both mouse and human orthologous genes.

Aqp3	AQP3
Nos1	NOS1
Nos2	NOS2
Nos3	NOS3
Sirt1	SIRT1
Uox	UOX

...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
Aqp2^cph/Aqp2^cph		C57BL/6J-Aqp2^cph	J:109463
Aqp2^F204V/Aqp2^F204V		C57BL/6-Aqp2^F204V	J:105809
Aqp2^tm1(AQP2)Suc/Aqp2⁺		involves: 129S4/SvJae * C57BL/6	J:113716
Aqp2^tm1(cre)Blyg/Aqp2^tm1(cre)Blyg		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:121445
Models with phenotypic similarity to human disease where etiologies are distinct.²
Aqp3^tm1Ask/Aqp3^tm1Ask		involves: C57BL/6J	J:61675
Nos1^tm1Plh/Nos1^tm1Plh Nos2^tm1Mrl/Nos2^tm1Mrl Nos3^tm1Plh/Nos3^tm1Plh		involves: 129S4/SvJae * 129S7/SvEvBrd	J:100308
Sirt1^tm1Mcby/Sirt1^tm1Mcby		involves: 129S1/Sv * 129X1/SvJ * CD-1	J:160869
Uox^tm1Bay/Uox^tm1Bay		involves: 129S7/SvEvBrd * C57BL/6J	J:103187

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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