Ighmbp2^em1Cx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ighmbp2^em1Cx
• Name: immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 1, Gregory Cox
• MGI ID: MGI:7495583
• Synonyms: E365del
• Gene: Ighmbp2 Location: Chr19:3309076-3333011 bp, - strand Genetic Position: Chr19, 3.03 cM
• Alliance: Ighmbp2^em1Cx page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: This deletion of 3 base pairs, GAG, from exon 8 (c.1093_1095del) resulted in the in-frame loss of a glutamic acid at amino acid 365, which is in the helicase domain. Transcript levels were not found to be significantly reduced. (J:337488)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 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)