Tpm4^em1Hrd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tpm4^em1Hrd
• Name: tropomyosin 4; endonuclease-mediated mutation 1, Edna C Hardeman
• MGI ID: MGI:8192458
• Synonyms: Tpm4.2
• Gene: Tpm4 Location: Chr8:72889132-72906986 bp, + strand Genetic Position: Chr8, 34.81 cM
• Alliance: Tpm4^em1Hrd page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting generated a 90-bp deletion that interrupts the ATG start codon. Western blot analysis confirmed the absence of protein. TPM4.2 refers to the single isoform in mouse, while human has this short isoform as well as a longer isoform, TPM4.1. (J:242938)

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 Tpm4 Mutation: 11 strains or lines available

References

• Original: J:242938 Pleines I, et al., Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia. J Clin Invest. 2017 Mar 01;127(3):814-829
• All: 1 reference(s)