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)
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