Table 3 Examples of phenotypes and mutations identified as part of the Harwell Ageing Screen.
From: Novel gene function revealed by mouse mutagenesis screens for models of age-related disease
Pedigree | Phenotypic domain | Phenotype(s) | Age of detection (months) | Gene | CDS base change | Amino acid change | Supporting data | Current MGI alleles | Current MGI phenotypes | PubMed gene hits |
|---|---|---|---|---|---|---|---|---|---|---|
MPC-96 | Deafness | Age-related hearing loss | ⩾9 | Slc4a10 | 1940T>C | L647P | a | 1 targeted null | Behaviour Growth/size Homeostasis Mortality/aging Nervous System | 28 |
MPC-102 | Neuro-degeneration | Gait abnormalities | ⩾12 | Eftud1 | 2948A>G | K983R | a | None | Glioma | 4 |
MPC-151 | Deafness | (a) Progressive hearing loss (b) Reduced fat mass | (a) 3 (b) 7 | Wars2 | 349G>T | V117L (+ splicing defects) | a, b | 2 targeted null | Mitochondrial function GWAS adiposity | 7 |
MPC-173 | Vision Deafness | (a) Deafness (b) Progressive corneal opacity | (a) ⩾3 (b) ⩾9 | Ikzf2 | 1551C>A | H517Q | a | 2 targeted null | T-cell differentiation Reduced growth Increased mortality Abnormal eyelid development | 51 |
MPC-178 | Cardiac | Hypertrophic cardiomyopathy | 6 | Ecsit | 626G>T | N209I | a | 1 targeted null | Embryonic lethal | 28 |
MPC-200 | Skin Pathology | Epidermal and follicular hyperkeratosis | ⩾12 | Ces2F | 1286A>T | Q429L | a | None | None | 0 |
MPC-201 | Vision | (a) Progressive reduction in visual acuity (b) Retinal degeneration | (a) ⩾12 (b) ⩾12 | Idh3a | 685G>A | E229K | a | None | Retinitis Pigmentosa | 29 |
MPC-205 | Deafness | Progressive hearing loss | ⩾6 | Ptprq | 5945+2T>C | Donor splice | a | 4 targeted | Postnatal deafness | 253 |
MPC-205 | Renal Function | (a) Elevated creatinine/urea (b) Renal failure | (a) 6 (b) 10–12 | Lama5 | 2651A>G | E884G | a, b | One gene trap Four targeted | Development Renal Function Hom null lethal | 96 |
MPC-227 | Body Composition Musculo-skeletal | (a) Low-fat Mass (b) High-fat mass (c) Joint deterioration | (a) 3 (b) 18 (c) 15 | Acan | 5837C>T | A1946V | a | Three targeted null 1 ENU induced Two spontaneous | Craniofacial Growth/size Achondroplasia | 4,246 |
MPC-236 | Neuro- behaviour Neurological | (a) Sleep abnormalities (b) Motor function deterioration | (a) 4 (b) 12 | Vamp2 | 305T>A | I102N | a | Three targeted null | Synaptic vesicle function Growth/Size Mortality/Ageing Hom null lethal | 624 |
MPC-264 | Deafness | Progressive hearing loss | ⩾6 | Zfyve26 | 3943C>T | R1315X | a | 1 Endonuclease mediated | Spastic paraplegia | 16 |
