Rnf213^tm1.1Mfuji
Targeted Allele Detail

Summary

• Symbol: Rnf213^tm1.1Mfuji
• Name: ring finger protein 213; targeted mutation 1.1, Miki Fujimura
• MGI ID: MGI:5752774
• Synonyms: RNF213-KI
• Gene: Rnf213 Location: Chr11:119283926-119378244 bp, + strand Genetic Position: Chr11, 83.48 cM
• Alliance: Rnf213^tm1.1Mfuji page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:229422
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A G to A missense mutation results in the amino acid substitution of arginine for lysine at position 4828 (R4828K) in exon 61, corresponding to the human R4859K mutation in exon 60. Cre-mediated recombination removed the floxed neomycin cassette inserted upstream of exon 61. (J:229422)

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 Rnf213 Mutation: 192 strains or lines available

References

• Original: J:229422 Kanoke A, et al., Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease. Brain Res. 2015 Oct 22;1624:497-505
• All: 2 reference(s)