Nphp1^tm1Jgg
Targeted Allele Detail

Summary

• Symbol: Nphp1^tm1Jgg
• Name: nephronophthisis 1 (juvenile) homolog (human); targeted mutation 1, Joseph G Gleeson
• MGI ID: MGI:4437792
• Synonyms: Nphp1^neo
• Gene: Nphp1 Location: Chr2:127582652-127630817 bp, - strand Genetic Position: Chr2, 62.09 cM, cytoband F3
• Alliance: Nphp1^tm1Jgg page

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 details: Exon 4 was replaced with a neo cassette. The absence of protein expression was confirmed by immuohistochemistry on testis samples. (J:158019)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 26 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: 5 reference(s)