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Symbol
Name
ID
Nphp1
nephronophthisis 1 (juvenile) homolog (human)
MGI:1858233
Phenotype annotations related to reproductive system
Darker colors indicate more annotations
Human Phenotypes
Hypogonadism
Hypoplasia of penis
Decreased testicular size
Cryptorchidism
Aplasia/Hypoplasia of the vagina
Hydrometrocolpos
Hypoplasia of the ovary
Polycystic ovaries
Premature ovarian insufficiency
Irregular menstruation
Infertility
Disease(s) Associated with NPHP1
Bardet-Biedl syndrome
Senior-Loken syndrome

Mouse Phenotypes
abnormal sperm flagellum morphology
oligozoospermia
teratozoospermia
decreased male germ cell number
abnormal testis morphology
decreased testis weight
small testis
abnormal uterus morphology
enlarged uterus
hydrometra
abnormal spermatogenesis
abnormal spermiation
male infertility
Availability Mouse Genotype
Nphp1em1Lisu/Nphp1em1Lisu
Nphp1tm1.1(KOMP)Vlcg/Nphp1tm1.1(KOMP)Vlcg
Nphp1tm1.1Hung/Nphp1tm1.1Hung

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)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory