Rab7^em2Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rab7^em2Rwb
• Name: RAB7, member RAS oncogene family; endonuclease-mediated mutation 2, Robert W Burgess
• MGI ID: MGI:7387060
• Synonyms: Rab7^V162M
• Gene: Rab7 Location: Chr6:87976088-88022252 bp, - strand Genetic Position: Chr6, 39.13 cM
• Alliance: Rab7^em2Rwb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A single G to A substitution in exon 5 at codon 162 resulting in a V162M substitution at the end of the sequence KEAINV, consistent with a human disease allele, was introduced via CRISPR/cas9 along with a silent G to A base substitution at Q164, 8 base pairs from the functional G to A substitution, to prevent guide reassociation with the modified allele. (J:346904)
• Inheritance: Dominant

Disease models

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 Rab7 Mutation: 121 strains or lines available

References

• Original: J:346904 Wong YC, et al., Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons. Proc Natl Acad Sci U S A. 2023 Oct 31;120(44):e2313010120
• All: 1 reference(s)