autosomal recessive polycystic kidney disease Disease Ontology Browser

Disease Ontology Browser

autosomal recessive polycystic kidney disease (DOID:0110861)
Alliance: disease page
Synonyms: AR-PKD
Alt IDs: ICD10CM:Q61.1, ICD9CM:753.14, MESH:D017044, NCI:C84579, ORDO:731, UMLS_CUI:C0085548
Definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.

Term Browser
Genes (13)
Models (34)

Disease References using Mouse Models (49)

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Pkhd1

Allelic Composition	Genetic Background	Reference	Phenotypes
Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg	involves: 129S/SvEv * 129S4/SvJae * C57BL/6	J:125113	View
Pkhd1tm1Gwu/Pkhd1tm1Gwu	involves: C57BL/6	J:167782	View
Pkhd1tm1Sswi/Pkhd1tm1Sswi	B6.Cg-Pkhd1^tm1Sswi	J:186064	View
Pkhd1tm2Cjwa/Pkhd1tm2Cjwa	either: B6.129(Cg)-Pkhd1^tm2Cjwa or C.129(Cg)-Pkhd1^tm2Cjwa	J:187735	View
Pkhd1tm1Gwu/Pkhd1tm1Gwu	Not Specified	J:143394	View
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa	involves: 129S6/SvEvTac * FVB/N	J:140302	View

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Pkhd1tm1Rbu/Pkhd1tm1Rbu	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:112509	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Arl3

Allelic Composition	Genetic Background	Reference	Phenotypes
Arl3Gt(OST263303)Lex/Arl3Gt(OST263303)Lex	involves: 129S5/SvEvBrd	J:107331	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Bicc1

Allelic Composition	Genetic Background	Reference	Phenotypes
Bicc1jcpk-bpk/Bicc1jcpk-bpk	BALB/c-Bicc1^jcpk-bpk	J:13276, J:21554, J:36348	View
Bicc1tm1Emdr/Bicc1tm1Emdr	B6SJL-Bicc1^tm1Emdr	J:121683	View
Bicc1jcpk-bpk/Bicc1jcpk-bpk	involves: BALB/c * CAST/EiJ	J:36348	View
Bicc1jcpk/Bicc1jcpk	involves: 101 * C3H * C57BL/6J * T STOCK	J:36348	View
Bicc1jcpk/Bicc1jcpk	involves: 101 * C3H * T STOCK	J:23047	View
Bicc1jcpk/Bicc1jcpk-bpk	involves: 101 * BALB/c * C3H * C57BL/6J * T STOCK	J:36348	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Cys1

Allelic Composition	Genetic Background	Reference	Phenotypes
Cys1cpk/Cys1cpk	B6(Cg)-Cys1^cpk/J	J:6718, J:9290	View
Cys1cpk/Cys1cpk	B6(Cg)-Cys1^cpk/JUnc	J:7202	View
Cys1cpk/Cys1cpk	C.B6(Cg)-Cys1^cpk	J:99616	View
Cys1cpk/Cys1cpk	D2J.B6(Cg)-Cys1^cpk	J:99620	View
Cys1cpk/Cys1cpk	involves: C57BL/6J * CD-1	J:33739	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Dzip1l

Allelic Composition	Genetic Background	Reference	Phenotypes
Dzip1lwarpy/Dzip1lwarpy	involves: C3H * C57BL/6	J:249936	View
Dzip1lwarpy/Dzip1lwarpy	involves: C57BL/6 * CD-1	J:249936	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Ift88

Allelic Composition	Genetic Background	Reference	Phenotypes
Ift88Tg737Rpw/Ift88Tg737Rpw	C3.FVB-Ift88^Tg737Rpw	J:18508, J:73583	View
Ift88Tg737Rpw/Ift88Tg737Rpw	FVB/N-Ift88^Tg737Rpw	J:18508, J:37149, J:73583, J:95813	View
Ift88Tg737Rpw/Ift88Tg737Rpw	involves: C3H * FVB/N	J:73583	View
Ift88Tg737Rpw/Ift88Tg737Rpw	involves: FVB/N	J:65500, J:90990	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Nek1

Allelic Composition	Genetic Background	Reference	Phenotypes
Nek1kat-2J/Nek1kat-2J	C57BL/6J-Nek1^kat-2J/J	J:37799	View
Nek1kat/Nek1kat	involves: C3HeB/FeJLe * C57BL/6J * RBF/Dn	J:37799	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Nek8

Allelic Composition	Genetic Background	Reference	Phenotypes
Nek8jck/Nek8jck	involves: C57BL/6J	J:11885	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Pkd1

Allelic Composition	Genetic Background	Reference	Phenotypes
Pkd1m1Bei/Pkd1m1Bei	involves: A/J * FVB/N	J:75360	View
Tg(Pkd1)26Mtru/0	involves: C57BL/6J * CBA/J	J:157952	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Sclt1

Allelic Composition	Genetic Background	Reference	Phenotypes
Sclt1Tg(CAG-sb10)1Dla/Sclt1Tg(CAG-sb10)1Dla	FVB/N-Sclt1^{Tg(CAG-sb10)1Dla}	J:243427	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Gene: Tsc1

Allelic Composition	Genetic Background	Reference	Phenotypes
Tsc1tm1Djk/Tsc1tm1Djk Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)LC1Bjd/0	involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA	J:140925	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Cytogenetic Marker: T(2;10)67Gso

Allelic Composition	Genetic Background	Reference	Phenotypes
T(2;10)67Gso/T(2;10)67Gso	involves: 101 * C3H * C3H/Rl * C57BL/RlGso * SEC/RlGso	J:75799	View

Mouse Models

Human Disease Modeled: autosomal recessive polycystic kidney disease
Associated Mouse Transgene: Tg(Pkd1)26Mtru

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Pkd1)26Mtru/0	involves: C57BL/6J * CBA/J	J:157952	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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