Myo9a^em1Atuf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myo9a^em1Atuf
• Name: myosin IXa; endonuclease-mediated mutation 1, Alda Tufro
• MGI ID: MGI:6681833
• Synonyms: Myo9a^R701X
• Gene: Myo9a Location: Chr9:59658179-59836149 bp, + strand Genetic Position: Chr9, 32.13 cM
• Alliance: Myo9a^em1Atuf page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T mutation in exon 14 which substitutes CGA encoding arginine to TGA, a stop codon that predicts termination of translation at amino acid 701 (p.R701*). This mutation has been identified in a family with focal segmental glomerulosclerosis. (J:302901)

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 Myo9a Mutation: 114 strains or lines available

References

• Original: J:302901 Li Q, et al., Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney Int. 2021 Jan 4
• All: 1 reference(s)