Symbol
Name
ID

Mks1
MKS transition zone complex subunit 1
MGI:3584243

Phenotype annotations related to renal/urinary system

Darker colors indicate more annotations

Human Phenotypes

Hypoplasia of the bladder

Neurogenic bladder

Vesicoureteral reflux

Horseshoe kidney

Hydronephrosis

Cystic renal dysplasia

Multiple renal cysts

Polycystic kidney dysplasia

Renal agenesis

Nephrotic syndrome

Chronic kidney disease

Abnormality of the ureter

Disease(s) Associated with MKS1

Bardet-Biedl syndrome

Meckel syndrome 1

Mouse Phenotypes

abnormal renal tubule epithelial cell primary cilium morphology

decreased kidney epithelial cell primary cilium length

increased kidney cell proliferation

kidney cyst

kidney cortex cyst

polycystic kidney

enlarged kidney

dilated kidney collecting duct

abnormal renal glomerular capsule morphology

dilated renal glomerular capsule

abnormal loop of Henle ascending limb thick segment morphology

dilated nephron

duplex kidney

abnormal urinary system development

Availability

Mouse Genotype

Mks1^hlb614/Mks1^hlb614

Mks1^krc/Mks1^krc

Mks1^{tm1a(EUCOMM)Wtsi}/Mks1^{tm1a(EUCOMM)Wtsi}

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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