Nphp1^em1Ssau
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nphp1^em1Ssau
• Name: nephronophthisis 1 (juvenile) homolog (human); endonuclease-mediated mutation 1, Sophie Saunier
• MGI ID: MGI:8166954
• Gene: Nphp1 Location: Chr2:127582652-127630817 bp, - strand Genetic Position: Chr2, 62.09 cM, cytoband F3
• Alliance: Nphp1^em1Ssau page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 73-bp deletion (c.33_40del) in exon 1 encompassing the ATG. Complete loss of mRNA and protein expression was confirmed in homozygotes. (J:360848)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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: 26 strains or lines available

References

• Original: J:360848 Garcia H, et al., Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2115960119
• All: 1 reference(s)