Tg(NEFH)200Jpj
Transgene Detail

Summary

• Symbol: Tg(NEFH)200Jpj
• Name: transgene insertion 200, Jean-Pierre Julien
• MGI ID: MGI:2182068
• Synonyms: NF-H⁴³
• Transgene: Tg(NEFH)200Jpj Location: unknown
• Alliance: Tg(NEFH)200Jpj page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(NEFH)200Jpj expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  NEFH (4744)

  Nefh	(MGI:97309)

• Mutation details: The complete human NFH gene including 9.6 kb of 5' sequences and 13.4 kb of 3' sequences, coding for 43 Lys-Ser-Pro (KSP) phosphorylation sites, was used for the transgene. Expression of the human gene in transgenic animals was confirmed by Western blot analysis. (J:69179, J:69180)

Disease models

Expression

In Structures Affected by this Mutation:

1 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

Notes

Founder 200 is representative of 2 founders carrying 14 and 20 copies of the transgene. These animals express approximately 1.5x - 4x the amount of endogenous mRNA and develop neurological anomalies after the first few weeks of life with progressive severity.

The phenotype is more severe in homozygous mice verses hemizygous mice, implying a correlation between phenotype and expression levels of NEFH.

References

• Original: J:69180 Cote F, et al., Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell. 1993 Apr 9;73(1):35-46
• All: 11 reference(s)