Cabin1^em2Dcfaj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cabin1^em2Dcfaj
• Name: calcineurin binding protein 1; endonuclease-mediated mutation 2, David C Fajgenbaum
• MGI ID: MGI:8286456
• Synonyms: CABIN1^V2185M
• Gene: Cabin1 Location: Chr10:75481946-75600175 bp, - strand Genetic Position: Chr10, 38.56 cM
• Alliance: Cabin1^em2Dcfaj page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Valine codon 2185 (GTG) was changed to methionine (ATG) (p.V2185M) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation found in a patient presenting with idiopathic multicentric Castleman disease (iMCD) and leads to a similar phenotype in mice. (J:378928)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Cabin1 Mutation: 114 strains or lines available

References

• Original: J:378928 Laczko D, et al., A patient-derived CABIN1 mutation recapitulates features of idiopathic multicentric Castleman disease in a mouse model. Blood Adv. 2025 Dec 23;9(24):6534-6537
• All: 1 reference(s)