Tpm4^Plt53
Chemically induced Allele Detail

Summary

• Symbol: Tpm4^Plt53
• Name: tropomyosin 4; Platelet 53
• MGI ID: MGI:8192457
• Gene: Tpm4 Location: Chr8:72889132-72906986 bp, + strand Genetic Position: Chr8, 34.81 cM
• Alliance: Tpm4^Plt53 page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU-mutagenesis induced a point mutation at nucleotide g.72,147,268, a substitution of A for G in the first dinucleotide of the donor splice slice in exon 7. RT-PCR analysis of cDNA from megakaryocytes shows that the mutation leads to the inclusion of part of intron 7 in the mRNA. The predicted result is a protein bearing 8 intron-encoded amino acids followed by premature truncation due to the presence of an in-frame stop codon at nucleotide g.72,147,291. Western blot with an antibody against the C-terminus shows complete absence of protein in homozygous platelets. Western blot with an antibody against the N-terminus shows the presence of residual truncated protein. Overlap of N- and C-termini of tropomyosin dimers is essential for filament formation and thus would not be possible with only the residual truncated protein, indicating a complete loss of the proteins canonical function. (J:242938)
• Inheritance: Dominant

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)