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. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444

Table 3. Examples of phenotypes and mutations identified as part of the Harwell Ageing Screen.

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 BehaviourGrowth/sizeHomeostasisMortality/agingNervous 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 functionGWAS adiposity 7
MPC-173 VisionDeafness (a) Deafness(b) Progressive corneal opacity (a) ⩾3(b) ⩾9 Ikzf2 1551C>A H517Q a 2 targeted null T-cell differentiationReduced growthIncreased mortalityAbnormal eyelid development 51
MPC-178 Cardiac Hypertrophic cardiomyopathy 6 Ecsit 626G>T N209I a 1 targeted null Embryonic lethal 28
MPC-200 SkinPathology 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 trapFour targeted DevelopmentRenal FunctionHom null lethal 96
MPC-227 Body CompositionMusculo-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 null1 ENU inducedTwo spontaneous CraniofacialGrowth/sizeAchondroplasia 4,246
MPC-236 Neuro-behaviourNeurological (a) Sleep abnormalities(b) Motor function deterioration (a) 4(b) 12 Vamp2 305T>A I102N a Three targeted null Synaptic vesicle functionGrowth/SizeMortality/AgeingHom null lethal 624
MPC-264 Deafness Progressive hearing loss ⩾6 Zfyve26 3943C>T R1315X a 1 Endonuclease mediated Spastic paraplegia 16

ENU, N-ethyl-N-nitrosourea.

The candidate gene, base change and amino acid change are indicated. Supplementary Information details whether (a) if this was the only medium or high-confidence coding mutation in the minimal mapping region and (b) where genetic complementation with a knockout allele has been carried out. We list the existing alleles documented on MGI along with the current phenotypic associations derived from MGI. The number of PubMed hits obtained by the gene name or synonyms is also provided. Slc4a10, ENSMUST00000112480; Eftud1, ENSMUST00000039881; Wars2, ENSMUST00000004343; Ikzf2, ENSMUST00000027146; Ecsit, ENSMUST00000180180; Ces2F, ENSMUST00000076384; Idh3a, ENSMUST00000167866; Ptprq, ENSMUST00000050702; Lama5, ENSMUST00000015791; Acan, ENSMUST00000032835; Vamp2, ENSMUST00000021273; and Zfyve26, ENSMUST00000021547. MGI, Mouse Genome Informatics. GWAS, Genome Wide Association Study. CDS, Coding DNA Sequence.