Rabep2^em2Jef
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rabep2^em2Jef
• Name: rabaptin, RAB GTPase binding effector protein 2; endonuclease-mediated mutation 2, Jefferson Y Chan
• MGI ID: MGI:5897819
• Synonyms: SNP
• Gene: Rabep2 Location: Chr7:126027596-126045079 bp, + strand Genetic Position: Chr7, 69.03 cM
• Alliance: Rabep2^em2Jef page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology targeting is used to introduce a nucleotide substitution R298Q (guanine to adenine) at position rs33080487 in the Rabep2 gene. Gene product is detected by western blot analysis (with mass spectrometry confirmation) of whole brain and neocortex tissue. The nucleotide substitution reflects a polymorphism (adenine) found in the BALB/cByJ inbred strain, in contrast to guanine found in C57BL/6 mice. (J:241068)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Rabep2 Mutation: 40 strains or lines available

References

• Original: J:241068 Lucitti JL, et al., Variants of Rab GTPase-Effector Binding Protein-2 Cause Variation in the Collateral Circulation and Severity of Stroke. Stroke. 2016 Dec;47(12):3022-3031
• All: 1 reference(s)