Atp6ap2^em1Nira
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atp6ap2^em1Nira
• Name: ATPase, H+ transporting, lysosomal accessory protein 2; endonuclease-mediated mutation 1, Nirupama Ramkumar
• MGI ID: MGI:7490116
• Synonyms: Atp6ap2^em1Cya, mutant sPRR
• Gene: Atp6ap2 Location: ChrX:12454040-12483288 bp, + strand Genetic Position: ChrX, 7.42 cM
• Alliance: Atp6ap2^em1Nira page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: Arginine codons 276 (AGG) and 279 (AGG) in exon 8 were changed to alanine (GCG) (p.R276A, p.R279A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. These mutations block processing of the encoded peptide by FURIN (paired basic amino acid cleaving enzyme) and site 1 membrane-bound transcription factor peptidase (MBTPS1). (J:324587)

Expression

In Structures Affected by this Mutation:

6 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 Atp6ap2 Mutation: 10 strains or lines available

References

• Original: J:324587 Ramkumar N, et al., Loss of Soluble (Pro)renin Receptor Attenuates Angiotensin-II Induced Hypertension and Renal Injury. Circ Res. 2021 Jun 25;129(1):50-62
• All: 1 reference(s)