Table 1.
Genes associated with spontaneous or handling-associated seizures in mutant micea
| Gene | Encoded protein | Gene | Encoded protein |
|---|---|---|---|
| Acp2 | acid phosphatase 2, lysosomal | Htr2c | 5-hydroxytryptamine (serotonin) receptor 2C |
| Adam22 | a disintegrin and metallopeptidase domain 22 | Htra2 | HtrA serine peptidase 2 |
| Aldh5a1 | aldhehyde dehydrogenase family 5, subfamily A1 | Itpr1 | inositol 1,4,5-triphosphate receptor 1 |
| Amph | amphiphysin | Jrk | jerky |
| potassium voltage-gated channel, shaker-related | |||
| Ank3 | ankyrin 3, epithelial | Kcna1 | subfamily, member 1 |
| potassium voltage-gated channel, shaker-related | |||
| Ap3b2 | adaptor-related protein complex 3, beta 2 subunit | Kcna2 | subfamily, member 2 |
| potassium inwardly-rectifying channel, subfamily | |||
| Ap3m2 | adaptor-related protein complex 3, mu 2 subunit | Kcnj6 | J, member 6 |
| potassium inwardly-rectifying channel, subfamily | |||
| Asc1 | anterior suture cataract 1 | Kcnj9 | J, member 9 |
| potassium inwardly-rectifying channel, subfamily | |||
| Atcay | ataxia, cerebellar, Cayman type homolog (human) | Kcnj10 | J, member 10 |
| potassium voltage-gated channel, subfamily Q, | |||
| Atxn7 | ataxin 7 | Kcnq2 | member 2 |
| Bax | Bcl2-associated X protein branched chain ketoacid dehydrogenase E1, alpha |
Myo5a | myosin Va |
| Bckdha | polypeptide | Neurod2 | neurogenic differentiation 2 |
| Bmi1 | Bmi1 polycomb ring finger oncogene | Npy | neuropeptide Y |
| Brunol4 | bruno-like 4, RNA binding protein | Nr4a3 | nuclear receptor subfamily 4, group A, member 3 |
| Bsn | bassoon | Numb | numb gene homolog (Drosophila) |
| calcium channel, voltage-dependent, P/Q type, alpha | |||
| Cacna1a | 1A subunit | Numbl | numb-like |
| calcium channel, voltage-dependent, alpha 2/delta | |||
| Cacna2d2 | subunit 2 | Otx1 | orthodenticle homolog 1 (Drosophila) |
| Cacnb4 | calcium channel, voltage-dependent, beta 4 subunit | Pcmt1 | protein-L-isoaspartate (D-aspartate) O- methyltransferase 1 |
| Cacng2 | calcium channel, voltage-dependent, gamma subunit | Pitpna | phosphatidylinositol transfer protein, alpha |
| Cdk5r1 | cyclin-dependent kinase 5, regulatory subunit (p35) 1 | Plaur | plasminogen activator, urokinase receptor |
| Chrna4 | cholinergic receptor, nicotinic, alpha polypeptide 4 | Plcb1 | phospholipase C, beta 1 |
| Clcn3 | chloride channel 3 | Plp1 | proteolipid protein (myelin) 1 |
| Cnp | 2',3'-cyclic nucleotide 3' phosphodiesterase | Pmp22 | peripheral myelin protein |
| Cplx1 | complexin 1 | Ppt1 | palmitoyl-protein thioesterase 1 |
| Cstb | cystatin B | Psap | prosaposin |
| Ctnnb1 | catenin (cadherin associated protein), beta 1 | Pten | phosphatase and tensin homolog |
| Ctsd | cathepsin D | Pura | purine rich element binding protein A |
| Dbnl | drebrin-like | Qk | quaking |
| Dbp | D site albumin promoter binding protein | Scg5 | secretogranin V |
| Drd1a | dopamine receptor D1A | Serpine2 | serine (or cysteine) peptidase inhibitor, clade E, member 2 |
| Emx1 | empty spiracles homolog 1 (Drosophila) epilepsy, progressive myoclonic epilepsy, type 2 gene |
Sgce | sarcoglycan, epsilon |
| Epm2a | alpha | Scn1a | sodium channel, voltage-gated, type I, alpha |
| Fgf14 | fibroblast growth factor 14 | Scn1b | sodium channel, voltage-gated, type I, beta |
| Fyn | Fyn proto-oncogene | Scn2a | sodium channel, voltage-gated, type-2 alpha |
| Gabbr1 | gamma-aminobutyric acid (GABA-B) receptor, 1 | Scn8a | sodium channel, voltage-gated, type VIII, alpha |
| Gabbr2 | gamma-aminobutyric acid (GABA-B) receptor 2 | Shh | sonic hedgehog |
| Gabrb3 | gamma-aminobutyric acid (GABA) B receptor 3 | Slc12a5 | solute carrier family 12, member 5 |
| Gabrg2 | gamma-aminobutyric acid (GABA-A) receptor gamma | Slc13a1 | solute carrier family 13 (sodium/sulphate symporters), member 1 |
| Gad2 | glutamic acid decarboxylase 2 | Slc1a2 | solute carrier family 1 (glial high affinity glutamate transporter), member 2 |
| Gjb1 | gap junction protein, beta 1 | Slc25a12 | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 |
| Gjc2 | gap junction protein, gamma 2 | Slc2a1 | solute carrier family 2 (facilitated glucose transporter), member 1 |
| Gnao1 | guanine nucleotide binding protein, alpha O | Slc9a1 | solute carrier family 9 (sodium/hydrogen exchanger), member 1 |
| Gng3 | guanine nucleotide binding protein (G protein), gamma 3 |
Snap25 | synaptosomal-associated protein 25 |
| Gpr98 | G-protein coupled receptor, 98 (a.k.a. Mass1) | Sod2 | superoxide dismutase 2, mitochondrial |
| Gria2 | glutamate receptor, ionotropic, AMPA2 (alpha 2) | Sox1 | SRY-box containing gene 1 |
| Gria3 | glutamate receptor, ionotropic, AMPA2 (alpha 3) | Syn1 | synapsin I |
| Grm7 | glutamate receptor, metabotropic 7 | Syn2 | synapsin II |
| Helt | Hey-like transcription factor (zebrafish) | Synj1 | synaptojanin 1 |
| Hexa | hexosaminidase A | Tal2 | T-cell acute lymphocytic leukemia 2 |
| Hexb | hexosaminidase B | Tef | thyrotroph embryonic factor |
| Hlf | hepatic leukemia factor | Ube3a | ubiquitin protein ligase E3A |
| Usp18 | ubiquitin specific peptidase 18 |
a
Results were tabulated from a standard phenotype query of the Mouse Genome Informatics database (www.informatics.jax.org)