Rnf213^em1Takag
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rnf213^em1Takag
• Name: ring finger protein 213; endonuclease-mediated mutation 1, Masatoshi Takagi
• MGI ID: MGI:8253058
• Synonyms: Rnf213^H4008P
• Gene: Rnf213 Location: Chr11:119283926-119378244 bp, + strand Genetic Position: Chr11, 83.48 cM
• Alliance: Rnf213^em1Takag page

Mutation origin

• Strain of Origin: C57BL/6JJcl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology changed histidine codon 4008 (CAC) to proline (CCC) (p.H4008P) corresponding to that of human p.H4058P variant identified in a patient with moyamoya disease. (J:369095)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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 Rnf213 Mutation: 192 strains or lines available

References

• Original: J:369095 Kashimada A, et al., De novo variant in RING finger protein 213 causes systemic vasculopathy. JCI Insight. 2025 Jun 9;10(11)
• All: 1 reference(s)