Cd2ap^em1Irgu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cd2ap^em1Irgu
• Name: CD2-associated protein; endonuclease-mediated mutation 1, Indra R Gupta
• MGI ID: MGI:6476759
• Gene: Cd2ap Location: Chr17:43103842-43187556 bp, - strand Genetic Position: Chr17, 19.67 cM
• Alliance: Cd2ap^em1Irgu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated a 4 bp insertion that causes a frameshift at S198. This mutation was identified in a family with childhood-onset focal segmental glomerulosclerosis. (J:294238)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Cd2ap Mutation: 51 strains or lines available

References

• Original: J:294238 Takano T, et al., Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice. Kidney Int. 2019 Jan;95(1):57-61
• All: 1 reference(s)