Npnt^em1Zhwe
Endonuclease-mediated Allele Detail

Summary

• Symbol: Npnt^em1Zhwe
• Name: nephronectin; endonuclease-mediated mutation 1, Weishe Zhang
• MGI ID: MGI:6825765
• Synonyms: Npnt-c.777dup/p.Lys260*, Npnt^K260*
• Gene: Npnt Location: Chr3:132587506-132656052 bp, - strand Genetic Position: Chr3, 61.52 cM
• Alliance: Npnt^em1Zhwe page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology inserted a T at c.777 (c.777dup) in exon 8 resulting in a frameshift that leads to a premature stop in the next codon at lysine 260. Western blot analysis confirmed absence of protein in lung tissue. This is a mutation found in a family with bilateral renal agenesis. (J:314482)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Npnt Mutation: 43 strains or lines available

References

• Original: J:314482 Dai L, et al., A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans. J Am Soc Nephrol. 2021 Aug;32(8):1871-1879
• All: 1 reference(s)