Ghitm^em1Ltk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ghitm^em1Ltk
• Name: growth hormone inducible transmembrane protein; endonuclease-mediated mutation 1, Institute of Laboratory Animal Science
• MGI ID: MGI:7442770
• Synonyms: Ghitm^{em1(D326R)Ltk}
• Gene: Ghitm Location: Chr14:36842401-36857279 bp, - strand Genetic Position: Chr14, 21.29 cM
• Alliance: Ghitm^em1Ltk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting of exon 9 introduced the mutation (GAT to CGC) responsible for the amino acid substitution of aspartic acid with arginine at position 326 (D326R). (J:327550)

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 Ghitm Mutation: 25 strains or lines available

References

• Original: J:327550 Zhang L, et al., TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy. Life Sci Alliance. 2022 Oct;5(10):e202201478
• All: 1 reference(s)