Gjb1^em2Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gjb1^em2Rwb
• Name: gap junction protein, beta 1; endonuclease-mediated mutation 2, Robert W Burgess
• MGI ID: MGI:8224458
• Synonyms: R15Q
• Gene: Gjb1 Location: ChrX:100419984-100429235 bp, + strand Genetic Position: ChrX, 44.06 cM, cytoband D-F4
• Alliance: Gjb1^em2Rwb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: This CRISPR/cas9-mediated CGG to CAA mutation results in an R15Q substitution, which replicates a human mutation underlying Charcot-Marie-Tooth disease type 1X. (J:369610)
• Inheritance: Recessive

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 Gjb1 Mutation: 28 strains or lines available

References

• Original: J:369610 Tadenev ALD, et al., Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X. J Peripher Nerv Syst. 2023 Sep;28(3):317-328
• All: 1 reference(s)