Table 6.
TDP-43 homolog (TBPH) mutants cited in this review. mRNA, messenger RNA.
| Mutant Name | Description | TBPH mRNA/Protein | Phenotype |
|---|---|---|---|
|
TBPH Δ23 [267] |
1.6 kb deletion (promoter region + exon 1 and part of exon 2) | Absent protein (WB adult head + Immuno on larval and adult brain) Ab against AAs 1–268 |
Lethality throughout development; adult escapers with strongly reduced lifespan, incapacity of walking and climbing |
|
TBPH Δ142 [267] |
0.8 kb deletion (promoter region) | Absent protein (WB adult head) Ab against AAs 1–268 |
Lethality throughout development; adult escapers with strongly reduced lifespan, incapacity of walking and climbing |
|
TBPH Q367X [274] |
Single nucleotide change introducing STOP codon at amino acid 367 | Absent protein (WB adult head) Ab against AAs 179–192 |
Semi-lethal with adult escapers |
|
TBPH KO [268] |
Deletion of entire coding sequence | Absent mRNA (qRT-PCR on first instar larval CNS) | Lethal at 2nd instar larval stage |
|
TBPH ex26 [265] |
932 bp deletion (promoter region) | Absent mRNA (RT-PCR all developmental stages) Absent protein (Immuno on larval brain and muscle) Ab against AAs 307–531 |
Semi-lethal with adult escapers having severe movement defects |
|
TBPH G2 [275] |
Deletion (promoter region + part of exon 1) | Absent protein (WB third instar larval CNS) Ab against full length protein |
100% pupal lethal |
|
TBPH DD100 [266] |
Deletion (promoter region + part of exon 1) | Absent protein (WB adult head + Immuno on adult brain) Ab against AAs 291–305 or 517–531 |
Lethality throughout development, adult escapers with strongly reduced lifespan and impaired climbing |
|
TBPH DD96 [266] |
Deletion (promoter region + exons 1–3 + part of exon 4) |
Absent protein (WB adult head) Ab against AAs 291–305 or 517–531 |
Lethality throughout development, adult escapers with strongly reduced lifespan and impaired climbing |
This table describes the name and the associated reference of each mutant, the type of mutation, the detection of TBPH RNA and/or protein, and the major phenotypes of each mutant (AAs: amino acids; Ab: antibody; Immuno: immunohistochemistry; WB: Western blot).