Genetic Mouse Models 273 Genetic mouse models

Database updated on April 28, 2020

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Status Gene Symbol Gene Name Number of Models Syntenic Human gene score Human Syndromic Rescue Model
ADNPActivity-dependent neuroprotector homeobox12No1Yes
ADNPActivity-dependent neuroprotector homeobox12No1Yes
ADORA2AAdenosine A2a receptor2Unknown3No
AHI1Abelson helper integration site 13UnknownSNo
ALDH5A1Aldehyde Dehydrogenase 5 family, member A14Unknown1Yes
ALDH5A1Aldehyde Dehydrogenase 5 family, member A14Unknown1Yes
ANK2ankyrin 2, neuronal5No1No
ANK2ankyrin 2, neuronal5No1No
ANKRD11ankyrin repeat domain 113Unknown1No
ANKRD11ankyrin repeat domain 113Unknown1No
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B 2No3SNo
APBA2amyloid beta (A4) precursor protein-binding, family A, member 22Unknown3No
ARHGAP32Rho GTPase activating protein 323No3Yes
ARHGEF10Rho guanine nucleotide exchange factor 101No3No
ARID1BAT-rich interaction domain 1B8No1Yes
ARID1BAT-rich interaction domain 1B8No1Yes
ARXaristaless related homeobox5Unknown1No
ARXaristaless related homeobox5Unknown1No
ASH1LASH1 like histone lysine methyltransferase6No1Yes
ASH1LASH1 like histone lysine methyltransferase6No1Yes
ATP1A3Sodium potassium ATPase alpha 3 subunit2Unknown3SYes
ATP2B2TPase, Ca++ transporting, plasma membrane 21No2No
AUTS2AUTS2, activator of transcription and developmental regulator2No1No
AUTS2AUTS2, activator of transcription and developmental regulator2No1No
AVPR1AArginine vasopressin receptor 1A2Unknown2No
BCKDKbranched chain ketoacid dehydrogenase kinase3No1Yes
BCKDKbranched chain ketoacid dehydrogenase kinase3No1Yes
BCL11AB-cell CLL/lymphoma 11A2Yes1No
BCL11AB-cell CLL/lymphoma 11A2Yes1No
CACNA1Ccalcium voltage-gated channel subunit alpha1 C13Unknown1No
CACNA1Ccalcium voltage-gated channel subunit alpha1 C13Unknown1No
CACNA1FCalcium channel, voltage-dependent, L type, alpha 1F subunit1No3No
CACNA1GCav3.1 T-type Ca2+ Channel6Unknown3No
CACNA1Hcalcium channel, voltage-dependent, T type, alpha 1H subunit1Unknown2No
CACNA2D3calcium voltage-gated channel auxiliary subunit alpha2delta 32Yes1No
CACNA2D3calcium voltage-gated channel auxiliary subunit alpha2delta 32Yes1No
CADM1cell adhesion molecule 14Unknown3No
CADPS2Ca2+-dependent activator protein for secretion 25Yes3No
CAMK2Acalcium/calmodulin dependent protein kinase II alpha2No3SNo
CAPRIN1RNA granule protein 105 (Caprin 1)2Unknown2No
CC2D1ACoiled-coil and C2 domain containing 1A10No2No
CD38CD38 molecule2Unknown3No
CDKL5cyclin-dependent kinase-like 510No1Yes
CDKL5cyclin-dependent kinase-like 510No1Yes
CELF4CUGBP, Elav-like family member 47No1No
CELF4CUGBP, Elav-like family member 47No1No
CELF6CUGBP, Elav-like family member 61No3No
CHD2chromodomain helicase DNA binding protein 25No1Yes
CHD2chromodomain helicase DNA binding protein 25No1Yes
CHD7Chromodomain Helicase DNA Binding Protein 74No1Yes
CHD7Chromodomain Helicase DNA Binding Protein 74No1Yes
CHD8chromodomain helicase DNA binding protein 822No1Yes
CHD8chromodomain helicase DNA binding protein 822No1Yes
CICcapicua transcriptional repressor8Yes1Yes
CICcapicua transcriptional repressor8Yes1Yes
CNTN4contactin 41Unknown2No
CNTNAP2contactin associated protein-like 233Unknown2SYes
CNTNAP4contactin associated protein-like 47No2Yes
CSNK1Ecasein kinase 1, epsilon1No3No
CTNNB1catenin (cadherin associated protein), beta 11Yes1No
CTNNB1catenin (cadherin associated protein), beta 11Yes1No
CTNND2Catenin(cadherin associated protein), delta 21No2No
CUL3cullin 315No1Yes
CUL3cullin 315No1Yes
CYFIP1Cytoplasmic FMR1 interacting protein 13No2Yes
DAGLAdiacylglycerol lipasealpha4No3No
DEAF1DEAF1, transcription factor9Yes1No
DEAF1DEAF1, transcription factor9Yes1No
DHCR77-dehydrocholesterol reductase5No1No
DHCR77-dehydrocholesterol reductase5No1No
DIP2Adisco interacting protein 2 homolog A 2No1Yes
DIP2Adisco interacting protein 2 homolog A 2No1Yes
DISC1Disrupted in schizophrenia 113Unknown2Yes
DLG4discs, large homolog 4 (Drosophila)1Unknown1No
DLG4discs, large homolog 4 (Drosophila)1Unknown1No
DLGAP1DLG associated protein 12No2No
DMDDystrophin6UnknownSNo
DMPKdystrophia myotonica-protein kinase2Unknown1No
DMPKdystrophia myotonica-protein kinase2Unknown1No
DPP6dipeptidyl- petidase 61No3No
DPYSL3dihydropyrimidinase like 31Yes3No
DRD1Dopamine receptor D12No3No
DRD3Dopamine receptor D33Unknown3No
DSCAMDS cell adhesion molecule11No1No
DSCAMDS cell adhesion molecule11No1No
DVL3Dishevelled segment polarity protein 35No3Yes
DYRK1Adual specificity tyrosine-Y- phosphorylation regulated kinase 1A3No1No
DYRK1Adual specificity tyrosine-Y- phosphorylation regulated kinase 1A3No1No
EEF1A2eukaryotic translation elongation factor 1 alpha 27NoSNo
EIF4EEukaryotic translation initiation factor 4E2Yes3Yes
EIF4G1eukaryotic translation initiation factor 4 gamma 1 2No3No
EN2Engrailed homeobox 25Unknown3No
ERBINerbb2 interacting protein2No2No
ESRRBEstrogen-related receptor beta2Unknown3No
EXT1exostosin 11No3No
FEZF2FEZ family zinc finger 21Unknown3No
FMR1fragile X mental retardation 159Unknown1Yes
FMR1fragile X mental retardation 159Unknown1Yes
FOXG1Forkhead Box G11Unknown1No
FOXG1Forkhead Box G11Unknown1No
FOXP1Forkhead box P18Unknown1No
FOXP1Forkhead box P18Unknown1No
FOXP2forkhead box P29Unknown1No
FOXP2forkhead box P29Unknown1No
GABRB2gamma-aminobutyric acid type A receptor subunit beta2 8No1Yes
GABRB3gamma-aminobutyric acid type A receptor beta3 subunit22Unknown1Yes
GABRB3gamma-aminobutyric acid type A receptor beta3 subunit22Unknown1Yes
GLRA2glycine receptor, alpha 21Unknown3No
GRIA2Glutamate receptor, ionotropic, AMPA 21Unknown1No
GRIA2Glutamate receptor, ionotropic, AMPA 21Unknown1No
GRID2glutamate receptor, ionotropic, delta 22No3No
GRIK2glutamate receptor, ionotropic, kainate 24No2Yes
GRIK4Glutamate receptor, ionotropic, kainate 412No3Yes
GRIN1glutamate receptor, ionotropic, N-methyl D-aspartate 17No2Yes
GRIN2BGlutamate receptor, ionotropic, N-methyl D-aspartate 2B10No1No
GRID1glutamate receptor, ionotropic, delta 11No2No
GRIN2BGlutamate receptor, ionotropic, N-methyl D-aspartate 2B10No1No
GRIP1Glutamate receptor interacting protein 13Unknown2No
GRM5glutamate receptor, metabotropic 512No3No
GSTM1Glutathione S-transferase mu 11Unknown3No
GTF2Igeneral transcription factor Iii2Unknown3No
HDAC4Histone deacetylase 42Unknown3SNo
HMGN1High mobility group nucleosome binding domain 12Unknown2No
HOMER1homer scaffolding protein 14No3No
HOXA1Homeobox A13UnknownSNo
HTR1B5-hydroxytryptamine (serotonin) receptor 1B2Unknown3No
HTR3A5-hydroxytryptamine (serotonin) receptor 3A3Unknown3No
IL1RAPL1interleukin 1 receptor accessory protein-like 12Unknown3No
IMMP2LIMP2 inner mitochondrial membrane peptidase-like2Unknown3No
IQSEC2IQ motif and Sec7 domain 21Yes1No
IQSEC2IQ motif and Sec7 domain 21Yes1No
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)2Unknown2No
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 13Yes3No
KCNQ2potassium voltage-gated channel, KQT-like subfamily, member 21Unknown2No
KCTD13potassium channel tetramerization domain containing 136Yes3No
KIRREL3Kin of Irregular Chiasm-like 31No2No
KMT2ALysine methyltransferase 2A3No1No
KMT2ALysine methyltransferase 2A3No1No
LRFN2leucine rich repeat and fibronectin type III domain containing 22No3No
LRRC4leucine rich repeat containing 44No3Yes
MAGEL2MAGE like 21No1No
MAGEL2MAGE like 21No1No
MAOAMonoamine Oxidase A3Unknown3No
MBD3methyl-CpG binding domain protein 31Unknown3No
MCPH1microcephalin 12Unknown3No
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 22No3No
MECP2methyl-CpG binding protein 292Yes1Yes
MECP2methyl-CpG binding protein 292Yes1Yes
MEF2CMyocyte Enhancer Factor 2C9Unknown3SYes
METMET proto-oncogene, receptor tyrosine kinase10Unknown2No
MIR137microRNA 1376No2Yes
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)4No3Yes
NBEANeurobeachin2Unknown1No
NBEANeurobeachin2Unknown1No
NEGR1neuronal growth regulator 1 9No3Yes
NEXMIFneurite extension and migration factor 1No1No
NEXMIFneurite extension and migration factor 1No1No
NF1neurofibromin 110Unknown1Yes
NF1neurofibromin 110Unknown1Yes
NLGN1neuroligin 110Unknown2No
NLGN2neuroligin 24No1No
NLGN2neuroligin 24No1No
NLGN3neuroligin 343Yes1Yes
NLGN3neuroligin 343Yes1Yes
NLGN4Xneuroligin 4, X-linked3Unknown2No
NPAS2neuronal PAS domain protein 21Unknown3No
NR3C2nuclear receptor subfamily 3, group C, member 22Unknown1No
NR3C2nuclear receptor subfamily 3, group C, member 22Unknown1No
NRCAMNeural cell adhesion molecule1Unknown3No
NRP2neuropilin 24Unknown3No
NRXN1neurexin 12Unknown1No
NRXN1neurexin 12Unknown1No
NRXN2Neurexin23No1No
NRXN2Neurexin23No1No
NTNG1Netrin G11Unknown3SNo
NTNG2Netrin G21UnknownSNo
NUAK1NUAK family, SNF1-like kinase, 1 6Unknown2No
OPHN1Oligophrenin 11Unknown2No
OTUD7AOTU deubiquitinase 7A2Yes2No
OXToxytocin/neurophysin I prepropeptide [Homo sapiens (human)7Yes3Yes
OXTROxytocin receptor16Unknown2Yes
PAK2p21 (RAC1) activated kinase 23No2Yes
PCDH10protocadherin 103Unknown3Yes
PCDH19protocadherin 194No1No
PCDH19protocadherin 194No1No
PER1Period homolog 11Unknown3No
PITX1paired-like homeodomain 11Unknown3No
PLAURplasminogen activator, urokinase receptor1Unknown3No
PLNPhospholamban1Unknown3No
POGZpogo transposable element derived with ZNF domain5No1Yes
POGZpogo transposable element derived with ZNF domain5No1Yes
PRICKLE1prickle homolog 1 (Drosophila)5No2No
PRICKLE2prickle homolog 2 (Drosophila)2No2No
PRKCBProtein Kinase C, beta1Unknown2No
PRKDCProtein kinase, DNA activated, catalytic peptide2No3Yes
PTCHD1Patched domain containing 17No1Yes
PTCHD1Patched domain containing 17No1Yes
PTENphosphatase and tensin homolog28Unknown1Yes
PTENphosphatase and tensin homolog28Unknown1Yes
PTGS2prostaglandin-endoperoxide synthase 21No3No
RAI1retinoic acid induced 112Unknown1Yes
RAI1retinoic acid induced 112Unknown1Yes
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 41Unknown3No
RBFOX1RNA binding protein, fox-1 homolog2Unknown2No
RELNReelin9Unknown1Yes
RELNReelin9Unknown1Yes
RHEBRas homolog, mTORC1 binding3NoSNo
RIMS1regulating synaptic membrane exocytosis 110Yes1No
RIMS1regulating synaptic membrane exocytosis 110Yes1No
RPS6KA3ribosomal protein S6 kinase, 90kDa, polypeptide 31No3SNo
SCN1Asodium channel, voltage-gated, type I, alpha subunit17Unknown1Yes
SCN1Asodium channel, voltage-gated, type I, alpha subunit17Unknown1Yes
SCN2Asodium voltage-gated channel alpha subunit 27Unknown1Yes
SCN2Asodium voltage-gated channel alpha subunit 27Unknown1Yes
SCN8Asodium channel, voltage gated, type VIII, alpha subunit1Unknown1No
SCN8Asodium channel, voltage gated, type VIII, alpha subunit1Unknown1No
SEMA5ASema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A1Unknown2No
SETD5SET domain containing 5 2No1No
SETD5SET domain containing 5 2No1No
SHANK1SH3 and multiple ankyrin repeat domains 12Unknown2No
SHANK2SH3 and multiple ankyrin repeat domains 222No1Yes
SHANK2SH3 and multiple ankyrin repeat domains 222No1Yes
SHANK3SH3 and multiple ankyrin repeat domains 391Unknown1Yes
SHANK3SH3 and multiple ankyrin repeat domains 391Unknown1Yes
SLC1A2solute carrier family 1 (glial high affinity glutamate transporter), member 28NoSYes
SLC25A12solute carrier family 25 (Mitochondrial carrier, Aralar), member 124Unknown3No
SLC4A10Solute carrier 4, sodium bicarbonate transporter, member 101Unknown3No
SLC6A1Solute carrier family 6 member 11No1No
SLC6A1Solute carrier family 6 member 11No1No
SLC6A3solute carrier family 6 member 315No2Yes
SLC6A4solute carrier family 6 member 414Unknown3Yes
SLC6A8Solute carrier family 6 member 82Yes3No
SLC7A5solute carrier family 7 member 52No2Yes
SLC9A6solute carrier family 9, subfamily A3No1No
SLC9A6solute carrier family 9, subfamily A3No1No
SLC9A9solute carrier family 9 member A93Yes3No
SLITRK5SLIT and NTRK-like family, member 52No2No
SPASTSpastin1No1No
SPASTSpastin1No1No
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 25Unknown2Yes
STK39Serine threonine Kinase 39 (STE20/SPS1 homolog, yeast)1Unknown3No
STXBP1syntaxin binding protein 16Yes1Yes
STXBP1syntaxin binding protein 16Yes1Yes
SYN2Synapsin II3No3Yes
SYNGAP1synaptic Ras GTPase activating protein 1a13Unknown1No
SYNGAP1synaptic Ras GTPase activating protein 1a13Unknown1No
SYN1Synapsin I1No3No
TAOK2TAO kinase 25No2Yes
TBR1T-box, brain 117No1Yes
TBR1T-box, brain 117No1Yes
TBX1T-box11UnknownSNo
TCF4transcription factor 44No1Yes
TCF4transcription factor 44No1Yes
THRAthyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)1Unknown3No
TOP3BTopoisomerase (DNA) 3 Beta2No3No
TRIM32Tripartite motif containing 32 4No3Yes
TRIOTrio Rho guanine nucleotide exchange factor2No1No
TRIOTrio Rho guanine nucleotide exchange factor2No1No
TRPC6Transient receptor potential cation channel, subfamily C, member 64No2Yes
TSC1tuberous sclerosis 132Unknown1Yes
TSC1tuberous sclerosis 132Unknown1Yes
TSC2tuberous sclerosis 216Unknown1Yes
TSC2tuberous sclerosis 216Unknown1Yes
UBE3Aubiquitin protein ligase E3A30Unknown1Yes
TSHZ3Teashirt zinc finger homeobox 32No1No
TSHZ3Teashirt zinc finger homeobox 32No1No
UBE3Aubiquitin protein ligase E3A30Unknown1Yes
UPF2UPF2 regulator of nonsense mediated mRNA decay3No3Yes
UPF3BUPF3B, regulator of nonsense mediated mRNA decay3No1Yes
UPF3BUPF3B, regulator of nonsense mediated mRNA decay3No1Yes
USP7Ubiquitin specific peptidase 71No2SNo
WDFY3WD repeat and FYVE domain containing 34Unknown1No
WDFY3WD repeat and FYVE domain containing 34Unknown1No
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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