Table 3.
Mouse models for acromelic dysplasias
| Targeted gene | Strain-specific gene targeting strategy | Musculoskeletal phenotypes | Ocular phenotype | Other phenotypes |
|---|---|---|---|---|
| Fbn1 | Global exon 10 deletion with Rosa26-Cre | Shortened long bones | Not reported | Thickened and fibrotic skin |
| Adamts10 |
a: Knockout b: Knockin of human WMS mutation |
a, b: Some embryonic/neonatal lethality and reduced weight gain b: Shortened long bones, altered growth plate, and increased skeletal muscle mass |
a, b: Persistence of FBN2 in the adult ciliary zonule |
a: Stiff skin b: Increased skeletal muscle mass |
| Adamts17 | Global deletion of exon 4 with CAG-Cre | Shortened long bones, shortened hypertrophic zone in growth plate, and brachydactyly | Not reported | Thickened skin |
| Adamtsl2 |
a: Global deletion b: Prx1-Cre conditional deletion (limb) c: Scx-Cre conditional deletion (tendon) d: Col2a-Cre conditional deletion (growth plate) |
a: Perinatal lethality b, c, d: Shorter long bones b, c: Shorter Achilles tendon d: Altered growth plate |
Not reported |
a: Bronchial occlusion, ventricular septal defect, and bone shortening in newborns in one model |
| Ltbp2 | Global exon 1 deletion with Cre-Lox | Not reported | Ectopia lentis and fragmented ciliary zone | Not reported |
| Ltbp3 |
a: Deletion of two exons via homologous recombination b: Knockout in 129SvEv/Sw background |
a: Rounded head, shortened snout, domed skull, shorter long bones, osteoarthritis, and osteosclerosis |
Not reported |
b: Involuted spleen and thymus |
| Smad4 |
a:
Tbx18-conditional deletion (cartilage) b: Pax6-conditional deletion (lens) c: Bglap-conditional deletion (bone) |
a: Chrondrodysplasia, limb shortening c: Reduced bone formation and reduced bone mineral density |
b: Microphthalmia and cataract formation |
Not reported |