Lhpp^em1Lizh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lhpp^em1Lizh
• Name: phospholysine phosphohistidine inorganic pyrophosphate phosphatase; endonuclease-mediated mutation 1, Lianfeng Zhang
• MGI ID: MGI:8261238
• Synonyms: LHPP^E56K
• Gene: Lhpp Location: Chr7:132212367-132308149 bp, + strand Genetic Position: Chr7, 76.3 cM, cytoband F4
• Alliance: Lhpp^em1Lizh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission:
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 56 (GAG) was changed to lysine (AAG) (p.E56K) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation (SNP rs377748077:G>A), which affects the encoded protein's inorganic pyrophosphatase (PPase) activity and is associated with resistance to depression. (J:373925)

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 Lhpp Mutation: 31 strains or lines available

References

• Original: J:373925 Sha L, et al., LHPP-mediated inorganic pyrophosphate hydrolysis-driven lysosomal acidification in astrocytes regulates adult neurogenesis. Cell Rep. 2023 Aug 29;42(8):112975
• All: 1 reference(s)