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Nphp1tm1Jgg
Targeted Allele Detail
Nomenclature
Symbol: Nphp1tm1Jgg
Name: nephronophthisis 1 (juvenile) homolog (human); targeted mutation 1, Joseph G Gleeson
MGI ID: MGI:4437792
Synonyms: Nphp1neo
Gene: Nphp1  Location: Chr2:127740732-127788897 bp, - strand  Genetic Position: Chr2, 62.09 cM, cytoband F3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:158019
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 4 was replaced with a neo cassette. The absence of protein expression was confirmed by immuohistochemistry on testis samples. (J:158019)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nphp1 Mutation:  11 strains or lines available
References
Original:  J:158019 Louie CM, et al., AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet. 2010 Feb;42(2):175-80
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory