Symbol
Name
ID

Nphp1
nephronophthisis 1 (juvenile) homolog (human)
MGI:1858233

Phenotype annotations related to renal/urinary system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Hyposthenuria

Enuresis

Neurogenic bladder

Vesicoureteral reflux

Horseshoe kidney

Renal tubular atrophy

Thickening of the tubular basement membrane

Tubular basement membrane disintegration

Tubulointerstitial fibrosis

Renal corticomedullary cysts

Abnormal renal medulla morphology

Nephronophthisis

Hydronephrosis

Multiple renal cysts

Polyuria

Nephrotic syndrome

Renal insufficiency

Chronic kidney disease

Stage 5 chronic kidney disease

Impaired renal concentrating ability

Disease(s) Associated with NPHP1

Bardet-Biedl syndrome

Joubert syndrome 4

nephronophthisis

nephronophthisis 1

Senior-Loken syndrome

Mouse Phenotypes		renal/urinary system phenotype	kidney corticomedullary cyst	abnormal kidney morphology	glomerulosclerosis	abnormal renal tubule morphology	renal tubule hypertrophy	renal fibrosis	isosthenuria	decreased urine output
Availability	Mouse Genotype	renal/urinary system phenotype	kidney corticomedullary cyst	abnormal kidney morphology	glomerulosclerosis	abnormal renal tubule morphology	renal tubule hypertrophy	renal fibrosis	isosthenuria	decreased urine output
	Nphp1^em1Lisu/Nphp1^em1Lisu
	Nphp1^tm1.1Hung/Nphp1^tm1.1Hung	*

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23