Reported mutations in components of the early secretory pathway and their resulting phenotypes
| Gene mutation . | Human disease . | Animal model . | References . |
|---|---|---|---|
| LMAN1 | F5F8D | F5F8D | Nichols et al4 , Zhang et al9 |
| MCFD2 | F5F8D | NR | Zhang et al5 |
| SAR1B | Anderson disease or CMRD | NR | Jones et al1 |
| SEC23A | CLSD | Phenotype reminiscent of CLSD*† (crusher zebrafish) | Boyadjiev et al2 , Lang et al10 |
| SEC23B | CDAII | CDAII† (zebrafish) | Schwarz et al11 |
| SEC24A | NR | NR | |
| SEC24B | NR | Craniorachischisis (mice) | Merte et al7 , Wansleeben12 |
| SEC24C | NR | Normal development* (zebrafish) | Sarmah et al8 |
| SEC24D | NR | Craniofacial defects† (Bulldog zebrafish) | Sarmah et al8 |
| Gene mutation . | Human disease . | Animal model . | References . |
|---|---|---|---|
| LMAN1 | F5F8D | F5F8D | Nichols et al4 , Zhang et al9 |
| MCFD2 | F5F8D | NR | Zhang et al5 |
| SAR1B | Anderson disease or CMRD | NR | Jones et al1 |
| SEC23A | CLSD | Phenotype reminiscent of CLSD*† (crusher zebrafish) | Boyadjiev et al2 , Lang et al10 |
| SEC23B | CDAII | CDAII† (zebrafish) | Schwarz et al11 |
| SEC24A | NR | NR | |
| SEC24B | NR | Craniorachischisis (mice) | Merte et al7 , Wansleeben12 |
| SEC24C | NR | Normal development* (zebrafish) | Sarmah et al8 |
| SEC24D | NR | Craniofacial defects† (Bulldog zebrafish) | Sarmah et al8 |
F5F8D indicates combined deficiency of coagulation factors V and VIII; CMRD, chylomicron retention disorder; CLSD, cranio-lenticulo-sutural-dysplasia; CDAII, congenital dyserythropoietic anemia type II; and NR, none reported.
Morphant zebrafish models (where the zebrafish have been treated with a morpholino antisense oligonucleotide to “knockdown” the expression of the gene of interest).
Mutant zebrafish models.