Lama5^em1Isa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lama5^em1Isa
• Name: laminin, alpha 5; endonuclease-mediated mutation 1, Yoshitaka Isaka
• MGI ID: MGI:7518862
• Synonyms: V3684M KI
• Gene: Lama5 Location: Chr2:179818166-179867652 bp, - strand Genetic Position: Chr2, 102.7 cM
• Alliance: Lama5^em1Isa page

Mutation origin

• Strain of Origin: C57BL/6JJcl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISRP/Cas9 technology generated a valine to methionine substitution at amino acid 3684 (p.V3684M). This corresponds to the human pathogenic p.V3687M variant identified in a family with slowly progressive focal segmental glomerulosclerosis. (J:338953)

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 Lama5 Mutation: 157 strains or lines available

References

• Original: J:338953 Kaimori JY, et al., A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects. JCI Insight. 2022 Dec 8;7(23)
• All: 1 reference(s)