Human Disease and Mouse Model Detail

Human Disease

Term: Polycystic Kidney Disease, Autosomal Recessive; ARPKD
OMIM ID: 263200

Synonyms

Polycystic Kidney and Hepatic Disease 1; PKHD1; Polycystic Kidney Disease, Infantile, Type I

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...

Pkhd1

PKHD1

...both mouse and human orthologous genes.

Arl3	ARL3
Bicc1	BICC1
Cys1	CYS1
Ift88	IFT88
Nek1	NEK1
Nek8	NEK8
Pkd1	PKD1
Tsc1	TSC1

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

T(2;10)67Gso		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Pax8-rtTA2S*M2)1Koes
Tg(Pkd1)26Mtru

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Pkhd1^tm1.1Ggg/Pkhd1^tm1.1Ggg			involves: 129S/SvEv * 129S4/SvJae * C57BL/6	J:125113
Pkhd1^tm1Cjwa/Pkhd1^tm1Cjwa			involves: 129S6/SvEvTac * FVB	J:140302
Pkhd1^tm1Gwu/Pkhd1^tm1Gwu			involves: C57BL/6	J:167782
Pkhd1^tm1Gwu/Pkhd1^tm1Gwu			Not Specified	J:143394
Pkhd1^tm2Cjwa/Pkhd1^tm2Cjwa			either: B6.129(Cg)-Pkhd1^tm2Cjwa or C.129(Cg)-Pkhd1^tm2Cjwa	J:187735
Models with phenotypic similarity to human disease where etiologies are distinct.²
Arl3^{Gt(OST263303)Lex}/Arl3^{Gt(OST263303)Lex}			involves: 129S5/SvEvBrd	J:107331
Bicc1^jcpk-bpk/Bicc1^jcpk-bpk			BALB/c-Bicc1^jcpk-bpk	J:13276, J:21554, J:36348
Bicc1^jcpk-bpk/Bicc1^jcpk-bpk			involves: BALB/c * CAST/EiJ	J:36348
Bicc1^jcpk/Bicc1^jcpk			involves: 101 * C3H * C57BL/6J * T STOCK	J:36348
Bicc1^jcpk/Bicc1^jcpk-bpk			involves: 101 * BALB/c * C3H * C57BL/6J * T STOCK	J:36348
Bicc1^jcpk/Bicc1^jcpk			involves: 101 * C3H * T STOCK	J:23047
Bicc1^tm1Emdr/Bicc1^tm1Emdr			B6SJL-Bicc1^tm1Emdr	J:121683
Cys1^cpk/Cys1^cpk			D2J.B6(Cg)-Cys1^cpk	J:99620
Cys1^cpk/Cys1^cpk			C.B6(Cg)-Cys1^cpk	J:99616
Cys1^cpk/Cys1^cpk			involves: C57BL/6J * CD-1	J:33739
Cys1^cpk/Cys1^cpk			B6(Cg)-Cys1^cpk/JUnc	J:7202
Cys1^cpk/Cys1^cpk			B6(Cg)-Cys1^cpk/J	J:6718, J:9290
Ift88^Tg737Rpw/Ift88^Tg737Rpw			involves: C3H * FVB/N	J:73583
Ift88^Tg737Rpw/Ift88^Tg737Rpw			C3.FVB-Ift88^Tg737Rpw	J:18508, J:73583
Ift88^Tg737Rpw/Ift88^Tg737Rpw			involves: FVB/N	J:65500, J:90990
Ift88^Tg737Rpw/Ift88^Tg737Rpw			FVB/N-Ift88^Tg737Rpw	J:18508, J:37149, J:73583, J:95813
Nek1^kat-2J/Nek1^kat-2J			C57BL/6J-Nek1^kat-2J/J	J:37799
Nek1^kat/Nek1^kat			involves: C3HeB/FeJLe * C57BL/6J * RBF/Dn	J:37799
Nek8^jck/Nek8^jck			involves: C57BL/6J	J:11885
Pkd1^m1Bei/Pkd1^m1Bei			involves: A/J * FVB/N	J:75360
Tsc1^tm1Djk/Tsc1^tm1Djk Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)LC1Bjd/0		5	involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA	J:140925
Models involving transgenes or other mutation types.³
T(2;10)67Gso/T(2;10)67Gso			involves: 101 * C3H * C3H/Rl * C57BL/RlGso * SEC/RlGso	J:75799
Tg(Pkd1)26Mtru/0			involves: C57BL/6J * CBA/J	J:157952
Tsc1^tm1Djk/Tsc1^tm1Djk Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)LC1Bjd/0		5	involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA	J:140925
No similarity to the expected human disease phenotype was found.⁴
NOT	Pkhd1^tm1Rbu/Pkhd1^tm1Rbu		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:112509

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.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
⁵Conditionally 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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