Ighmbp2^em5Cx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ighmbp2^em5Cx
• Name: immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 5, Gregory Cox
• MGI ID: MGI:7495802
• Gene: Ighmbp2 Location: Chr19:3309076-3333011 bp, - strand Genetic Position: Chr19, 3.03 cM
• Alliance: Ighmbp2^em5Cx page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: This A to G point mutation (c.2753A>G) changes amino acid 918 from tyrosine to cysteine, replicating the Tyr920Cys disease-causing mutation found in human. (J:337488)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Ighmbp2 Mutation: 46 strains or lines available

References

• Original: J:337488 Martin PB, et al., Clinically relevant mouse models of Charcot-Marie-Tooth type 2S. Hum Mol Genet. 2023 Apr 6;32(8):1276-1288
• All: 1 reference(s)