NCCR

1. Targeted mouse
  • Gene :

    Pmp22

     
  • Line name :

    Pmp22 KO

     
  • Organ :

    PNS

     
  • Cell :

    Schwann cell

     
  • Feature :

    Retarded onset of myelination, abundant sausage-like hypermyelination structures (tomacula) at a young age followed by severe demyelination, axonal loss and functional impairment. Mice carrying one functional copy of Pmp22 are less affected but also exhibit focal tomacula comparable morphologically to those in hereditary neuropathy with liability to pressure palsies (HNPP).

     
  • Contact :

    Guya Giambonini-Brugnoli

     
  • Email :

    guya.brugnolicell.biol.ethz.ch

     
  • Phone :

    +411 633 3348

     
  • Lab :

    Institute of Cell Biology

     
  • Ref. :

    Abstract

     
  • Update :

    Wednesday, 30th April 2003 - 11:21

     


2. Transgenic mouse
  • Gene :

    Pmp22

     
  • Line name :

    Pmp22 Tg

     
  • Organ :

    PNS

     
  • Cell :

    Schwann cell

     
  • Feature :

    Mice carrying 16-30 copies of the pmp22 gene have severe congenital hypomyelinating neuropathy with an almost complete lack of myelin and marked slowing of nerve conduction. Affected nerves have more nonmyelinating Schwann cells not forming onion bulbs but aligning in association with axons. Mutant Schwann cells adopt a premyelination-like state (express embryonic markers). Continued Schwann cell proliferation into adulthood.

     
  • Contact :

    Guya Giambonini-Brugnoli

     
  • Email :

    guya.brugnolicell.biol.ethz.ch

     
  • Phone :

    +411 633 3348

     
  • Lab :

    Institute of Cell Biology

     
  • Ref. :

    Abstract

     
  • Update :

    Sunday, 11th May 2003 - 10:26

     


3. Targeted mouse
  • Gene :

    Pmp22

     
  • Line name :

    Trembler

     
  • Organ :

    PNS

     
  • Cell :

    Schwann cell

     
  • Feature :

    Tr NATURAL MUTANT mice. Asp to Gly point mutation in a putative membrane-associated domain of Pmp22 protein. The autosomal dominant trembler mutation (Tr) maps to mouse chromosome 11. Schwann-cell defect characterized by severe hypomyelination and continued Schwann-cell proliferation throughout life. Results in clumsy movement, tremor and transient seizures at young age.

     
  • Contact :

    Guya Giambonini-Brugnoli

     
  • Email :

    guya.brugnolicell.biol.ethz.ch

     
  • Phone :

    +411 633 3348

     
  • Lab :

    Institute of Cell Biology

     
  • Ref. :

    Abstract

     
  • Update :

    Sunday, 11th May 2003 - 10:33

     


All genes


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