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Phenotypes Associated with This Genotype
Genotype
MGI:3813305
Allelic
Composition
Nphp1tm1.1Hung/Nphp1tm1.1Hung
Genetic
Background
B6.Cg-Nphp1tm1.1Hung
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphp1tm1.1Hung mutation (0 available); any Nphp1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• no abnormalities are found in the kidney

reproductive system
• testes weight is significantly lower than controls (80 mg vs. 94 mg in wild-type males)
• the few mature sperm found in the cauda epididymis showed morphological abnormalities, with less than 0.5% of total sperm being both motile and viable
• the flagellar membrane of the rare surviving spermatozoa found in the epididymides are usually ruptured, with the electron-dense microtubules of flagellar axonema dispersed and/or disorganized
• sperm counts in the testis and the cauda epididymis are significantly reduced by greater than 5-fold and greater than 20-fold, respectively
• there is a greater than 20-fold reduction in the number of viable sperm found in the cauda epididymis
• morphological abnormalities are first observed in the elongating spermatids of stages VIII-X
• many of the spermatids prematurely detach from Sertoli cells and degenerate before sloughing off into the lumen
• male mice are not capable of siring offspring

endocrine/exocrine glands
• testes weight is significantly lower than controls (80 mg vs. 94 mg in wild-type males)

cellular
• the flagellar membrane of the rare surviving spermatozoa found in the epididymides are usually ruptured, with the electron-dense microtubules of flagellar axonema dispersed and/or disorganized

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Nephronophthisis 1; NPHP1 256100 J:140205


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory