Human Disease and Mouse Model Detail

Human Disease

Term: Polycystic Kidney Disease 1; PKD1
OMIM ID: 173900

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...

Pkd1

PKD1

...both mouse and human orthologous genes.

b2b1146Clo	none identified
b2b1163.1Clo	none identified
b2b1163Clo	none identified
b2b1200.1Clo	none identified
b2b1200.2Clo	none identified
b2b1200Clo	none identified
b2b1291.1Clo	none identified
b2b1291.2Clo	none identified
b2b1291Clo	none identified
Bicc1	BICC1
Cep290	CEP290
Gpsm1	GPSM1
Pdk1	PDK1

...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	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi		involves: 129S6/SvEvTac	J:193175
Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi		involves: 129S6/SvEvTac	J:193175
Pkd1^tm1Bdgz/Pkd1⁺		involves: 129S1/Sv * 129X1/SvJ	J:130086
Pkd1^tm1Djmp/Pkd1^tm1Djmp		involves: 129P2/OlaHsd * C57BL/6	J:94582
Pkd1^tm1Ggg/Pkd1^tm1Ggg		Not Specified	J:76062
Pkd1^tm1Gztn/Pkd1^tm1Gztn Gt(ROSA)26Sor^{tm9(cre/ESR1)Arte}/Gt(ROSA)26Sor⁺	3	involves: 129S/Sv * 129S7/SvEvBrd * C57BL/6	J:162080
Pkd1^tm1Jzh/Pkd1⁺		either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)	J:43193, J:52573, J:72627
Pkd1^tm1Jzh/Pkd1^tm1Jzh		either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)	J:43193, J:72627, J:81443
Pkd1^tm1Rsa/Pkd1⁺		involves: 129S4/SvJaeSor	J:72238
Pkd1^tm2.1Ggg/Pkd1^tm2.1Ggg		involves: 129S4/SvJae * Black Swiss * C57BL/6	J:103719
Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(MMTV-cre)4Mam/0	3	involves: 129S4/SvJae * FVB	J:103719
Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Nes-cre)Wme/0	3	involves: 129S4/SvJae * C57BL/6 * CBA	J:185855
Pkd1^tm2Jzh/Pkd1⁺		either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)	J:72627
Pkd1^tm2Jzh/Pkd1^tm2Jzh		either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)	J:72627
Pkd1^tm2Jzh/Pkd1^tm2Jzh		involves: 129S4/SvJae * C57BL/6	J:140012
Pkd1^tm2Som/Pkd1^tm2.1Som Tg(Cdh16-cre)91Igr/0	3	involves: C57BL/6 * ICR * SJL	J:135301
Pkd1^tm3.1Jzh/Pkd1^tm3.1Jzh		involves: 129P2/OlaHsd * C57BL/6	J:140012
Pkd1^tm3Jzh/Pkd1^tm3Jzh Tg(Ggt1-cre)M3Egn/0	3	involves: 129P2/OlaHsd * C57BL/6 * SJL	J:140012
Models with phenotypic similarity to human disease where etiologies are distinct.²
b2b1146Clo/b2b1146Clo		C57BL/6J-b2b1146Clo	J:175213
b2b1163.1Clo/b2b1163.1Clo		C57BL/6J-b2b1163.1Clo	J:175213
b2b1163Clo/b2b1163Clo		C57BL/6J-b2b1163Clo	J:175213
b2b1200.1Clo/b2b1200.1Clo		C57BL/6J-b2b1200.1Clo	J:175213
b2b1200.2Clo/b2b1200.2Clo		C57BL/6J-b2b1200.2Clo	J:175213
b2b1200Clo/b2b1200Clo		C57BL/6J-b2b1200Clo	J:175213
b2b1291.1Clo/b2b1291.1Clo		C57BL/6J-b2b1291.1Clo	J:175213
b2b1291.2Clo/b2b1291.2Clo		C57BL/6J-b2b1291.2Clo	J:175213
b2b1291Clo/b2b1291Clo		C57BL/6J-b2b1291Clo	J:175213
Bicc1^b2b222Clo/Bicc1^b2b222Clo		C57BL/6J-Bicc1^b2b222Clo	J:175213
Cep290^b2b1454Clo/Cep290^b2b1454Clo		C57BL/6J-Cep290^b2b1454Clo	J:175213
Pdk1^b2b1585Clo/Pdk1^b2b1585Clo		C57BL/6J-Pdk1^b2b1585Clo	J:175213

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.
³Conditionally targeted allele(s)

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