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Targeted Allele Detail
Symbol: Nphp1tm1.1Hung
Name: nephronophthisis 1 (juvenile) homolog (human); targeted mutation 1.1, Hung Li
MGI ID: MGI:3813273
Synonyms: Nphp1del20
Gene: Nphp1  Location: Chr2:127740732-127788897 bp, - strand  Genetic Position: Chr2, 62.09 cM, cytoband F3
Germline Transmission:  Earliest citation of germline transmission: J:140205
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsNphp1tm1Hung homozygotes were crossed with a cre transgenic strain to remove exon 20. This exon contains the polyadenylation signal so upon its excision, a truncated transcript with a shorter half-life was predicted to occur. While truncated mRNA was detectable, immunoblotting testes extract with thee different antibodies failed to detect any full length or truncated protein. (J:140205)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Nphp1 Mutation:  15 strains or lines available
Original:  J:140205 Jiang ST, et al., Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Hum Mol Genet. 2008 Nov 1;17(21):3368-79
All:  2 reference(s)

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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MGI 6.15
The Jackson Laboratory