Nphp1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

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

34 phenotypes from 4 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Nphp1^em1Lisu/Nphp1^em1Lisu C57BL/6J-Nphp1^em1Lisu	abnormal kidney morphology	J:324503
	abnormal renal tubule morphology	J:324503
	abnormal spermatogenesis	J:324503
	normal cardiovascular system phenotype	J:324503
	decreased male germ cell number	J:324503
	decreased urine output	J:324503
	disorganized retina inner nuclear layer	J:324503
	glomerulosclerosis	J:324503
	increased circulating creatinine level	J:324503
	isosthenuria	J:324503
	kidney corticomedullary cyst	J:324503
	normal limbs/digits/tail phenotype	J:324503
	photoreceptor inner segment degeneration	J:324503
	photoreceptor outer segment degeneration	J:324503
	renal fibrosis	J:324503
	renal tubule hypertrophy	J:324503
	retina degeneration	J:324503
	retina outer nuclear layer degeneration	J:324503
	thin retina outer plexiform layer	J:324503
Nphp1^{tm1.1(KOMP)Vlcg}/Nphp1^{tm1.1(KOMP)Vlcg} C57BL/6N-Nphp1^{tm1.1(KOMP)Vlcg}/Ucd	abnormal skin morphology	J:211773
	abnormal testis morphology	J:211773
	abnormal uterus morphology	J:211773
	decreased exploration in new environment	J:211773
	enlarged uterus	J:211773
	hydrometra	J:211773
	male infertility	J:211773
	small testis	J:211773
Nphp1^tm1.1Hung/Nphp1^tm1.1Hung B6.Cg-Nphp1^tm1.1Hung	abnormal sperm flagellum morphology	J:140205
	abnormal spermiation	J:140205
	decreased male germ cell number	J:140205
	decreased testis weight	J:140205
	male infertility	J:140205
	oligozoospermia	J:140205
	normal renal/urinary system phenotype	J:140205
	teratozoospermia	J:140205
Nphp1^tm1Jgg/Nphp1^tm1Jgg involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * NMRI	retina degeneration	J:158019
	thin retina outer nuclear layer	J:158019

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 11/12/2024 MGI 6.24