Nphp1^em1Lisu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nphp1^em1Lisu
• Name: nephronophthisis 1 (juvenile) homolog (human); endonuclease-mediated mutation 1, Liangzhong Sun
• MGI ID: MGI:7280685
• Synonyms: Nphp1^del2-20
• Gene: Nphp1 Location: Chr2:127582652-127630817 bp, - strand Genetic Position: Chr2, 62.09 cM, cytoband F3
• Alliance: Nphp1^em1Lisu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• CRISPR/Cas9 technology generated a 6 bp and a 39796 bp deletion in exon 2-20. (J:324503)

Disease models

Expression

In Structures Affected by this Mutation:

7 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:324503 Li D, et al., An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis. Hum Mol Genet. 2021 Dec 27;31(2):232-243
• All: 1 reference(s)