Rac2^em1Shl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rac2^em1Shl
• Name: Rac family small GTPase 2; endonuclease-mediated mutation 1, Steven M Holland
• MGI ID: MGI:6473850
• Synonyms: Rac2^E62K
• Gene: Rac2 Location: Chr15:78443369-78456983 bp, - strand Genetic Position: Chr15, 37.57 cM
• Alliance: Rac2^em1Shl page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a glutamate to lysine substitution at amino acid 62. The E62K mutation was identified in several patients with immunodeficiency 73B. (J:276213)

Disease models

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 Rac2 Mutation: 17 strains or lines available

References

• Original: J:276213 Hsu AP, et al., Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. Blood. 2019 May 2;133(18):1977-1988
• All: 1 reference(s)