Slc7a7^em1Lbu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc7a7^em1Lbu
• Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 7; endonuclease-mediated mutation 1, Lindsay Burrage
• MGI ID: MGI:6391169
• Gene: Slc7a7 Location: Chr14:54606899-54655237 bp, - strand Genetic Position: Chr14, 27.76 cM, cytoband C1
• Alliance: Slc7a7^em1Lbu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted exons 3 and 4 resulting in a frameshift and early termination of translation. (J:293773)

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 Slc7a7 Mutation: 78 strains or lines available

References

• Original: J:293773 Stroup BM, et al., A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Hum Mol Genet. 2020 Aug 3;29(13):2171-2184
• All: 2 reference(s)