Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
autosomal dominant distal hereditary motor neuronopathy 2 | HSPB8* | Hspb8* | 1 model | Alliance of Genome Resources | |||
autosomal recessive distal hereditary motor neuronopathy 1 | IGHMBP2* | Ighmbp2* | 2 models | Alliance of Genome Resources | |||
juvenile spinal muscular atrophy | SMN1*, SMN2* | Smn1* | 2 models | Alliance of Genome Resources | |||
Werdnig-Hoffmann disease | SMN1*, SMN2 | Smn1* | 17 models | Alliance of Genome Resources | |||
X-linked distal spinal muscular atrophy 3 | ATP7A* | Atp7a* | 2 models | Alliance of Genome Resources | |||
Werdnig-Hoffmann disease | VPS54 | Vps54* | 1 model | Alliance of Genome Resources | |||
adult spinal muscular atrophy | SMN1*, SMN2 | Smn1 | Alliance of Genome Resources | ||||
autosomal dominant adult-onset proximal spinal muscular atrophy | VAPB* | Vapb | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 10 | EMILIN1* | Emilin1 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 11 | SPTAN1* | Sptan1 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 12 | REEP1* | Reep1 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 13 | BSCL2* | Bscl2 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 14 | DCTN1* | Dctn1 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 3 | HSPB1* | Hspb1 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 4 | HSPB3* | Hspb3 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 5 | GARS1* | Gars1 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 6 | FBXO38* | Fbxo38 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 7 | SLC5A7* | Slc5a7 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 8 | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
autosomal dominant distal hereditary motor neuronopathy 9 | WARS1* | Wars1 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 10 | VRK1* | Vrk1 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 2 | SIGMAR1* | Sigmar1 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 4 | PLEKHG5* | Plekhg5 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 5 | DNAJB2* | Dnajb2 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 6 | REEP1* | Reep1 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 7 | VWA1* | Vwa1 | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 8 | SORD* | Sord | Alliance of Genome Resources | ||||
autosomal recessive distal hereditary motor neuronopathy 9 | COQ7* | Coq7 | Alliance of Genome Resources | ||||
intermediate spinal muscular atrophy | SMN1*, SMN2 | Smn1 | 1 model | Alliance of Genome Resources | |||
Kennedy's disease | AR* | Ar | 1 model | Alliance of Genome Resources | |||
spinal muscular atrophy | DPP6* | Dpp6 | Alliance of Genome Resources | ||||
spinal muscular atrophy | AR* | Ar | Alliance of Genome Resources | ||||
spinal muscular atrophy | ANKRD1* | Ankrd1 | Alliance of Genome Resources | ||||
spinal muscular atrophy | HEXB* | Hexb | Alliance of Genome Resources | ||||
spinal muscular atrophy | SMN1*, SMN2 | Smn1 | Alliance of Genome Resources | ||||
spinal muscular atrophy | VAPB* | Vapb | Alliance of Genome Resources | ||||
spinal muscular atrophy, Jokela type | CHCHD10* | Chchd10 | Alliance of Genome Resources | ||||
spinal muscular atrophy with lower extremity predominant 1 | DYNC1H1* | Dync1h1 | Alliance of Genome Resources | ||||
spinal muscular atrophy with lower extremity predominant 2A | BICD2* | Bicd2 | Alliance of Genome Resources | ||||
spinal muscular atrophy with lower extremity predominant 2B | ND6* | mt-Nd6 | Alliance of Genome Resources | ||||
spinal muscular atrophy with lower extremity predominant 2B | BICD2* | Bicd2 | Alliance of Genome Resources | ||||
spinal muscular atrophy with progressive myoclonic epilepsy | ASAH1* | Asah1 | Alliance of Genome Resources | ||||
X-linked spinal muscular atrophy 2 | UBA1* | Uba1 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
Kennedy's disease | Tg(AR*100Q)#Als | 1 model | |
Kennedy's disease | Tg(Prnp-AR*112Q)#Deme | 1 model | |
Kennedy's disease | Tg(CAG-AR*97Q)7-8Sobue | 1 model | |
Kennedy's disease | Tg(ACTA1-Ar)141Kyjo | 1 model | |
Kennedy's disease | Tg(AR*100Q)C32Als | 1 model | |
Kennedy's disease | Tg(AR*100Q)C25Als | 1 model |