Tg(TTR-V30M)62Imeg
Transgene Detail

Summary

• Symbol: Tg(TTR-V30M)62Imeg
• Name: transgene insertion 62, Institute of Molecular Embryology and Genetics
• MGI ID: MGI:3053567
• Synonyms: Tg(0.6hTTRMet30)62Imeg, Tg(o.6hTTRMet30)62Imeg, Tg(TTR-V30M)62Imeg, Tg(TTR-Val30Met)62Imeg
• Transgene: Tg(TTR-V30M)62Imeg Location: unknown
• Alliance: Tg(TTR-V30M)62Imeg page

Transgene origin

• Strain of Origin: C57BL/6

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(TTR-V30M)62Imeg expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TTR (7276)

  Ttr	(MGI:98865)

  Transgene codes for a protein with a valine to methionine mutation.

• Mutation details: The transgene comprises a 7.6-kilobase genomic DNA fragment containing the entire human transthyretin gene, with a mutation causing substitution of methionine for valine at amino acid position 30, and approximately 0.6 kb of upstream sequence isolated from a patient with familial amyloidotic polyneuropathy. Southern blot analysis revealed that several copies of the transgene had integrated tandemly. Human transthyretin mRNA was expressed in liver and yolk sac and was detected in serum, but not in several other tissues examined, including brain. However, the human transcript was found to be expressed ectopically in the head, excluding the brain, of line 62 fetuses at gestational days (E) 12.5 through E15, but not at E9.5 or E10.5. Human transthyretin was found to associate with the endogenous mouse protein to form chimeric tetramers. (J:92524)

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

Notes

This is one of six lines created by injection of the same human genomic segment; the others are numbered 1, 14, 41, 53 and 61. Tg(TTRV30M)14Imeg is treated separately, as it exhibits a craniofacial phenotype unique among these transgenic lines. Lines 61 and 62 were used as controls for line 14 and so were subjected to more intensive study than were the other lines without the phenotype.

References

• Original: J:92524 Yamamura K, et al., Tissue-specific and developmental expression of human transthyretin gene in transgenic mice. Dev Genet. 1987;8(4):195-205
• All: 1 reference(s)