Msn^em1Jkb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Msn^em1Jkb
• Name: moesin; endonuclease-mediated mutation 1, Janis K Burkhardt
• MGI ID: MGI:6883611
• Synonyms: moesin^R171W
• Gene: Msn Location: ChrX:95139651-95212159 bp, + strand Genetic Position: ChrX, 42.65 cM
• Alliance: Msn^em1Jkb 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 an arginine to tryptophan substitution at amino acid 171 (R171W). The R171W mutation is found in the majority of Immunodeficiency 50 (X-linked moesin associated immunodeficiency) patients. (J:320965)

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 Msn Mutation: 23 strains or lines available

References

• Original: J:320965 Avery L, et al., A Murine Model of X-Linked Moesin-Associated Immunodeficiency (X-MAID) Reveals Defects in T Cell Homeostasis and Migration. Front Immunol. 2021;12:726406
• All: 1 reference(s)