Phenotype: polycystic kidney

Definition the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure

Synonyms
  • multicystic kidney dysplasia
  • multicystic kidney dysplasia
  • Polycystic kidney disease
  • Polycystic kidney disease

MP browserMP:0008528

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Phenotype associations stats

0.74% of tested genes with null mutations on a B6N genetic background have a phenotype association to polycystic kidney (17/2298)

0.35% females (8/2286) 0.44% males (10/2283)

Gene variants with polycystic kidney

Total number of significant genotype-phenotype associations: 18

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
AU021092
AU021092tm1b(KOMP)Wtsi
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Arih2
Arih2tm1.1(KOMP)Vlcg
HET Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
C3ar1
C3ar1tm1.1(KOMP)Vlcg
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Ces1d
Ces1dem1Mbp
HOM Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Cib2
Cib2tm1b(EUCOMM)Wtsi
HET Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney MRC Harwell | IMPC 0.0
Dnal1
Dnal1tm1.1(KOMP)Vlcg
HET Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney TCP | IMPC 0.0
Dspp
Dspptm1.1(KOMP)Vlcg
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Efna5
Efna5tm1b(EUCOMM)Wtsi
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney HMGU | IMPC 0.0
Fam72a
Fam72atm1.1(KOMP)Vlcg
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Gpa33
Gpa33tm2b(KOMP)Wtsi
HOM Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney TCP | IMPC 0.0
Gpr39
Gpr39em1Mbp
HOM Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
H3f3b
H3f3btm1.1(KOMP)Mbp
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Hmx2
Hmx2tm1.1(KOMP)Vlcg
HOM Female Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0
Mapt
Mapttm1b(EUCOMM)Hmgu
HOM Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney ICS | IMPC 0.0
Plekhm1
Plekhm1tm1b(EUCOMM)Hmgu
HOM Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney TCP | IMPC 0.0
Rnd3
Rnd3tm1b(EUCOMM)Hmgu
HET Female postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney MRC Harwell | IMPC 0.0
Slc3a1
Slc3a1tm1.1(KOMP)Vlcg
HOM Male postnatal polycystic kidney Gross Pathology and Tissue Collection | Kidney UC Davis | IMPC 0.0

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