Myo5b^em1Jrgo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myo5b^em1Jrgo
• Name: myosin VB; endonuclease-mediated mutation 1, James Goldenring
• MGI ID: MGI:7444324
• Synonyms: Myo5b^G519R
• Gene: Myo5b Location: Chr18:74575435-74905769 bp, + strand Genetic Position: Chr18, 50.7 cM
• Alliance: Myo5b^em1Jrgo page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting introduced the mutation (GGA to CGG) responsible for the amino acid substitution of glycine with arginine at position 519 (G519R). (J:333963)
• Inheritance: Not Specified

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Myo5b Mutation: 99 strains or lines available

References

• Original: J:333963 Burman A, et al., Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis. Cell Mol Gastroenterol Hepatol. 2022
• All: 2 reference(s)