Animal and cell models for choroideremia:


Note: UK mouse and U Penn Cell Models have been published in the Public Library of Science which makes the materials, methods and data available for non-commercial sharing under PLOS policies located at: http://www.plosone.org/static/policies.action#sharing


Mouse CHM model as published in PLOS:

- UK Models as published in PLOS: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0057769

  • The conditional knock-out mouse lineChmFlox,Tyr-Cre, that carries the Cre-recombinase transgene under control of the tyrosinase promoter, was generated previously and genotyping of mice was performed as described [9]. As controls we used ChmFlox littermates and Chm+(WT) mice on the C57Bl6 background. Both females and males were used in this study. Rab27a-mutant (ashen, Rab27ash/ash) mice were purchased from Jackson Laboratory (Bar Harbor, Maine, USA) and bred onto a C57Bl6 background.

Human iPS, RPE models and pre-clincal studies at Inserm in Montpellier France:

  • The characterization of genomic DNA from the fibroblasts of patient CHM1 reveals duplication and deletion of sequences at the intron 7-exon 8 junction that lead to loss of the intron 7 acceptor splice site and thus deletion of exon 8 - First creation of human CHM iPS and RPE models.
  • CHM-AAV5-_Hamel_Kalatzis_etal-Molecular Therapy-Apr 2014.pdf

Human CHM iPS and fibroblast cell models as published in PLOS:
  • U Penn models as published in PLOS: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0061396
  • CPS1 - has a premature stop codon (Arg555 → stop) mutation in DNA from CPS1 was retained leading to a carboxy-terminal truncation of 99 amino acids [28], [30]mutation that is predicted to destabilize the REP-1 protein.
  • CPS2 - has an L550P missense mutation. Previous work using in silico analysis of the L550P mutation suggests that the proline residue at position 550 destabilizes the beta-structural elements, and REP-1 tertiary structure [14]. The loss of REP-1 protein was confirmed by western blot analysis in both cell lines.

Human CHM Fibroblasts:


Note: The Choroideremia Research Foundation is currently building a biobank of hemoblast, fibroblast and iPS CHM models in conjuction with Coriell/NIGMS and the Wiasman iPS Coreat the University of Wisconsin. Expected availability 2Q2015.


iPS cell production is commercially available:


Some vendors for iPS cell production and/or Biobanking:


Mouse - CHM Knockout Mouse - Full CHM Gene Deletion:


Zebrafish - CHM Nonsense Mutation:

Zebrafish - Other:


CHM zebrafish are commercially available: http://zfin.org/ZDB-GENE-030318-2

Human Cell Models:



iPS Cell modeling:




Note: The Choroideremia Research Foundation is currently building a biobank of hemoblast, fibroblast and iPS CHM models in conjuction with Coriell/NIGMS and the Wiasman iPS Coreat the University of Wisconsin. Expected availability 1Q2015.