Nphp3^tm1.1Nakaj
Targeted Allele Detail

Summary

• Symbol: Nphp3^tm1.1Nakaj
• Name: nephronophthisis 3 (adolescent); targeted mutation 1.1, Yoshiro Nakajima
• MGI ID: MGI:6159873
• Synonyms: Nphp3^G2A
• Gene: Nphp3 Location: Chr9:103879743-103921010 bp, + strand Genetic Position: Chr9, 56.11 cM
• Alliance: Nphp3^tm1.1Nakaj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:261989
• Parent Cell Line: B6-3i/HK3i (ES Cell)
• Strain of Origin: C57BL/6NJcl

Mutation description

• Allele Type: Targeted (Altered localization)
• Mutation: Single point mutation
• Mutation details: A GGC -> GCC (G2A) mutation was inserted in exon 1 and a floxed neo cassette was inserted in intron 1 via homologous recombination. Cre mediated recombination removed the neo cassette. The mutation disrupts targeting of the protein to the cilia. (J:261989)

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 Nphp3 Mutation: 76 strains or lines available

References

• Original: J:261989 Nakajima Y, et al., The Inv compartment of renal cilia is an intraciliary signal-activating center to phosphorylate ANKS6. Kidney Int. 2018 May;93(5):1108-1117
• All: 1 reference(s)