Table 1.
| Gene | Allele Distribution3 (Nontargeted) | Notable Alleles | Associated Human Peripheral Neuropathies | Molecular Function | Affected Regions of PNS | References |
|---|---|---|---|---|---|---|
| ATPase family gene 3-like 2 (Afg3l2) | 1 spontaneous 1 proviral insertion | paralysé (par) | motoneuron disease | m-AAA mitochondrial ATP- dependent metalloprotease | neuronal mitochondria | 30 |
| ecotropic murine leukemia virus insertion 66 (Emv66) | ||||||
| calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Cacna 1a) | 4 spontaneous 3 ENU mutagenesis | tottering (tg) | calcium channel, initiates acetylcholine release at the NMJ | NMJ | 26, 27, 58–64 | |
| leaner (la) | ||||||
| rolling Nagoya (RN) | Lambert-Eaton myasthenic syndrome (LEWIS) | |||||
| dystonin (Dst) | 14 spontaneous 3 ENU mutagenesis 1 other mutagenesis 1 transgene insertion | dystonia musculorum (dt) | unknown, possible structural function | sensory axons | 22, 43, 52, 53 | |
| dtJ | ||||||
| dtAlb | ||||||
| dtTg4 | ||||||
| dt24J | ||||||
| dt27J | ||||||
| dtFrkordt29J | ||||||
| dynein cytoplasmic 1 heavy chain 1 (Dync1h1) | 2 ENU mutagenesis 1 X-ray mutagenesis | cramping 1 (cral) | retrograde axonal transport | 36,37 | ||
| legs at odd angles (loa) | muscle spindles, sensory axons, DRG cell bodies | |||||
| sprawling (swl) | human sensory neuropathy (HSN) | |||||
| FIG4 homolog (Fig4) | 1 spontaneous | pale tremor (plt) | Charcot-Marie-Tooth (CMT4J) | Ptdlns(3,5)P25-phosphatase | sensory and motor cell bodies, lage-diameter axons | 38 |
| galactosyl-ceramidase (Gale) | 3 spontaneous | twitcher (twi) | globoid cell leukodystrophy (Krabbe’s disease) | glycoside hydrolase, several glycosphingolipid substrates | Schwann cells | 77–82 |
| glycyl-tRNA synthetase (Gars) | 1 spontaneous 1 gene-trapped | Nmf249 | Charcot-Marie-Tooth (CMT2D) | only aminoacyl tRNA synthetase for glycine | motor and sensory axons | 31,32,92 |
| laminin, alpha 2 (Lama2) | 4 spontaneous 1 ENU mutagenesis | dystrophia muscularis (dy) | congenital muscular dystrophy (MDC1A) | structural component of basal lamina | Schwann cells and Schwann cell basal lamina | 57, 83, 85, 87–89 |
| dy2J | ||||||
| dvPas | ||||||
| Large | 2 spontaneous 1 transgene insertion | myodystrophy (myd) originally “froggy” (fg) | congenital muscular dystrophy (MDC1D) | glycosyltransferase for α-dystroglycan | Schwann cells, NMJ | 67, 84, 86, 90, 91 |
| enervated (enr) | ||||||
| leucine-rich repeat LGI family, member 4 (Lgi4) | 1 spontaneous | claw paw (dp) | signaling molecule necessary for myelination | Schwann cells and possibly neurons | 29 | |
| Lipin1 (Lpin1) | 2 spontaneous | fatty liver dystrophy (fld) | phosphatidate phosphatase | myelin in the peripheral nerves | 23,44 | |
| myelin basic protein (MBP) | 4 spontaneous 1 spontaneous revertant | shiverer (Shi) | structural myelin protein | Schwann cells | 45,46 | |
| myelin deficient (mld) | ||||||
| peripheral myelin protein (Pmp22) | 3 spontaneous 3 ENU mutagenesis | trembler (Tr) | Dejerine-Sottas syndrome (DSS) | membrane protein necessary for myelination, possibly involving interaction with the basal lamina | Schwann cells | 74–76 |
| trembler-J (Tr-J) | Charcot-Marie Tooth (CMT1A) | |||||
| Tr-Ncnp | ||||||
| Tr-m1H | Dejerine-Sottas syndrome (DSS) | |||||
| Tr-m2H | ||||||
| Trm-3H | ||||||
| quaking (qk) | 5 ENU mutagenesis 2 spontaneous | quaking quaking viable (qkv) | RNA binding protein involved in multiple pathways, including glial cell fate determination | Schwann cells | 24, 54–56 | |
| qkkt1 | ||||||
| qkk2 | ||||||
| qkkt3/4 | ||||||
| qklethal-1 | ||||||
| qke5 | ||||||
| sodium channel, voltage-gated, type VIII, alpha (Scn8a) | 5 spontaneous 4 ENU mutagenesis 1 gene-trapped 1 transgene insertion | motor endplate disease (med) | sodium channel, primary channel at the node of Ranvier | motor axons and NMJ | 28, 65, 66, 96–98 | |
| medJ | ||||||
| jolting (jo) | ||||||
| med-TgA4Bs | ||||||
| degenerating muscle (dmu) | ||||||
| tubulin-specific chaperone e (Tbce) | 1 spontaneous | progressive motor neuronopathy (pmn) | motoneuron disease | tubulin assembly | motor axons | 35, 48, 71 |
| ubiquitin carboxy-terminal hydrolase L1 (Uchl1) | 1 spontaneous | gracile axonal dystrophy (gad) | ubiquitin hydrolase and/or ligase, ubiquitin monomer stabilization | motor and sensory axons, DRGs | 49, 72, 73 | |
| ubiquitin specific peptidase 14 (Usp14) | 1 spontaneous | ataxia Jackson (axJ) | deubiquitinating enzyme, regulates neurotransmitter release | NMJ | 33,34 | |
| unc-5 homolog C (Unc5c) | 1 spontaneous 2 transgene insertion | rostral cerebellar malformation (rem) | netrin-1 receptor, axon guidance | trochlear and phrenic nerves | 25,95 | |
| rcmTg(Ucp)1.23Kz | ||||||
| vacuolar protein sorting 54 (Vsp54) | 1 spontaneous 1 gene-trapped | wobbler (wr) | motoneuron disease | member of Golgi Associated Retrograde Protein (GARP) complex, endosomal trafficking, anterograde and retrograde axonal transport | motoneurons | 39,40 |
| leptin (Lep) | 2 spontaneous | obese (Ob) | type II diabetic neuropathy | leptin, control of blood gluscose levels | large motor and sensory fibers, small sensory fibers | 69 |
| leptin receptor (Lepr) | 12 spontaneous 1 ENU mutagenesis 1 transgene insertion | diabetes (db) | type II diabetic neuropathy | leptin receptor, control of blood glucose levels | large motor and sensory fibers | 68,70 |
| wallerian degeneration (WId) | 1 spontaneous | Wallerian degeneration slow (Wlds) | chimeric protein, delays Wallerian degeneration | axons | 47–50 | |
a
Allele numbers from Mouse Genome Data base FMGD