Table 1 Comparison of cystinosis in humans and available animal models (mice and zebrafish).
From: Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
Humans | Mice | Zebrafish | ||
|---|---|---|---|---|
Gene | CTNS | Ctns | ctns | |
Chromosome | 17 | 11 | 11 | |
Exons | 12 (first 2 non coding) | 12 (first 2 non coding) | 10 (all coding) | |
Ensembl gene code | ENSG00000040531 | ENSMUSG00000005949 | ENSDARG00000008890 | |
Protein | Cystinosin | Cystinosin | Ctns | |
AA | 367 | 367 | 384 | |
UniProt code | O60931 | P57757 | F1QM07 | |
FVB/N mice | C57BL/6 mice | |||
Developmental delay | ||||
Intrauterine | No | No | No | Not applicable |
Infancy, childhood | Yes | No | Yes | Yes (early embryonic) |
Embryonic mortality | Not reported | Not reported | Not reported | Increased |
Cystine accumulation | Yes | Yes | Yes | Yes |
Onset of renal dysfunction | 6–12 months | No | 2 months | 3–6 dpf |
Onset of renal failure | 5–10 years | No | 10 months | Not investigated |
Histopathology | ||||
PTEC changes | 6–12 months | No | 6 months | 3–6 dpf |
Podocyte changes | 2–5 years | No | No | 3–6 dpf |
References | This study | |||
