Gjb1^em2Ckab
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gjb1^em2Ckab
• Name: gap junction protein, beta 1; endonuclease-mediated mutation 2, Charles K Abrams
• MGI ID: MGI:8175627
• Synonyms: T55I
• Gene: Gjb1 Location: ChrX:100419984-100429235 bp, + strand Genetic Position: ChrX, 44.06 cM, cytoband D-F4
• Alliance: Gjb1^em2Ckab page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CACC to TATT change resulting in a threonine to isoleucine substitution at amino acid 55 (p.T55I). This is a mutation that produces protein which is localized to the endoplasmic reticulum and was identified in patients with X-linked form of Charcot-Marie-Tooth disease (CMTX1). (J:350504)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Gjb1 Mutation: 27 strains or lines available

References

• Original: J:350504 Abrams CK, et al., Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. Exp Neurol. 2022 Nov 18;360:114277
• All: 1 reference(s)