Human Disease and Mouse Model Detail

Human Disease

Term: Alport Syndrome, Autosomal Recessive
OMIM ID: 203780

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...

Col4a3	COL4A3
Col4a4	COL4A4

...both mouse and human orthologous genes.

Mmp9	MMP9
Mpv17	MPV17

...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
Col4a3^tm1Dec/Col4a3^tm1Dec		129X1/SvJ-Col4a3^tm1Dec	J:91619
Col4a3^tm1Dec/Col4a3^tm1Dec		involves: 129X1/SvJ * C57BL/6	J:37963
Col4a3^tm1Dec/Col4a3^tm1Dec		129-Col4a3^tm1Dec/J	J:158731
Col4a3^tm1Jhm/Col4a3^tm1Jhm Mmp9^tm1Tvu/Mmp9^tm1Tvu		involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	J:63137
Col4a3^tm1Jhm/Col4a3^tm1Jhm		involves: 129S1/Sv * 129X1/SvJ	J:37017
Col4a4^m1Btlr/Col4a4^m1Btlr		C57BL/6J-Col4a4^m1Btlr	J:158794, J:170552
Models with phenotypic similarity to human disease where etiologies are distinct.²
Mpv17/Mpv17		involves: CFW	J:48653

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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