Table III.
Neuronal Ceroid Lipofuscinoses Animal Models
| Neuronal ceroid lipofuscinoses type1 | Gene/protein (variant) | Mouse models | Large animal models with neuronal ceroid lipofuscinoses defects2 |
|---|---|---|---|
| CLN1 | PPT1 (INCL) | Cln1−/−, Ppt1Δex4, Ppt1Δex9, Cln1R151X103 | Miniature Dachshund |
| CLN2 | TPP1 (LINCL) | Tpp1−/−, Arg446His, Cln2R207X/R207X110, TgLSL-TPP1111 | Long-haired Dachshund2 |
| CLN3 | CLN3 (JNCL) | Cln3−/−, Cln3Δex1−6, Cln3Δex7−8 | ExeGen mini pig |
| CLN4 | DNAJC5, CSPα, (ANCL) | None | None |
| CLN5 | CLN5 | Cln5Δex3 | Borderdale sheep119,120, Devon cattle, Border collie |
| CLN6 | CLN6 | nclf (c.307insC) | South Hampshire sheep2, Merino sheep127, Australian shepherd |
| CLN7 | MFSD8 | Mfsd8tm1a/tm1128a | Chihuahua131, Japanese Macaque132 |
| CLN8 | CLN8 | Cln8/mnd (c.267–268insC) | English setter2, Alpine Dachsbracke134, Saluki135 |
| CLN9 | unknown | None | None |
| CLN10 | Cathepsin D (CTSD) | CTSD −/−136 | Swedish Landrace sheep, American bulldog |
| CLN11 | Progranulin | Grn−/−139, PGRN-deficient140 | |
| CLN12 | ATPase 13A2, | None | Tibetan terrier |
| CLN13 | Cathepsin F (CTSF) | Ctsf−/− | None |
| CLN14 | K+ channel protein (KCTD7) | None | None |
| Unknown NCL genetic defect | unknown | Rambouillet sheep, Beefmaster & Holstein cattle, domestic ferret, short-haired Siamese & Japanese cats, Aegidienberger horse, Nubian goat, Vietnamese pot-bellied pig, Lovebird parrot, Cynomologous monkey, Mallet duck, and dogs such as the American Staffordshire terrier, Australian terrier, Polish lowland sheepdog, Miniature schnauzer, Cocker spaniel, Dalmatian, Japanese retriever, Welsh corgi, Labrador retriever, Australian cattle dog |
1
Soluble proteins (CLN1, CLN2, CLN5, CLN10, CLN13); transmembrane proteins (CLN3, CLN6, CLN7, CLN8, CLN12, CLN14).
2
Active experimental populations available for study.