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. 2022 Dec 20;34(2):331–350. doi: 10.1007/s00335-022-09974-9

Table 1.

Top feedforward (FF) ANS expressed genes affecting electrocardiogram (ECG) activity

Gene identifier Mouse ECG phenotype Mouse behavioral phenotype Human neuropsychiatric disease (NPD) association from GWAS catalog 2019 and MGI enriched terms
Psmc6 HR ↑ HRV↓ Hyperactivity, decreased thigmotaxis Limited or no NPD annotations
1700086L19Rik rMSSD, HRV↓ Hyperactivity Limited or no NPD annotations
Mpst PQ ↓,HR ↑,PR ↓ Decreased exploration of a novel environment, increased latency to center entry, hypoactivity Limited or no NPD annotations
Mdp1 HR ↑ Increased latency to the first transition into the dark in light/dark box, decreased % prepulse inhibition Bipolar disorder, mood disorder
Gsg1l HR ↓ (F),HR ↑ (M),RR ↑ (F),RR ↓ (M) Hyperactivity, decreased startle response Limited or no NPD annotations
Cdc26 HR ↑ Increased prepulse inhibition Limited or no NPD annotations
Chmp2b HR, RR ↑ Abnormal freezing behavior in fear conditioning Tourette's syndrome or obsessive–compulsive disorder, frontotemporal dementia
Pitx3 HR ↑,ST, RR, QTc ↓ Hyperactivity, Increased coping response, decreased vertical activity, decreased exploration of a novel environment Cognitive ability, Parkinson’s disease
Prokr1 HR ↑,RR ↓, rMSSD ↑ No Limited or no NPD annotations
Arid4b HR,QRS ↑ Decreased centre time Limited or no NPD annotations
Zfp395 HR ↑ST,RR ↓ Hyperactivity Limited or no NPD annotations
Stx1a PQ↑,HR↓,ST,rMSSD,RR ↑HR_TTE ↓ No Disease of mental health
Hipk3 HR ↓,RR, HRV ↑ Decreased startle, hypoactivity, decreased prepulse inhibition, increased acoustic brainstem response thresholds Limited or no NPD annotations
Srsf11 HRV ↑ Decreased prepulse inhibition Limited or no NPD annotations
Tnnc1 HRV ↑ No Feeling worry, Bipolar disorder, Autism spectrum disorder or schizophrenia
Kbtbd7 HR ↓,RR ↑ Hyperactivity, decreased thigmotaxis Limited or no NPD annotations
Rasgef1a HR ↓, RR↑ Increased vertical activity Recurrent major depressive disorder
Cap2 HR↓,ST, rMSSD, RR, QTc ↑ No Limited or no NPD annotations
Bclaf1 rMSSD ↑ Hyperactivity Limited or no NPD annotations
Entpd1 rMSSD ↑ No Limited or no NPD annotations
4931406C07Rik HR ↓ rMSSD, HRV ↑ No Limited or no NPD annotations
Fbxl16 ST, RR, QTc, HR_TTE ↑ HR_TTE ↓, HRV ↑ Unresponsive to tactile stimuli Attention deficit hyperactivity disorder
Atn1 rMSSD, HRV ↑ Limb grasping, decreased exploration of novelty Limited or no NPD annotations
Lpin3 HR ↓,RR ↑ No Limited or no NPD annotations
Dnase1l2 HR ↓,RR ↑,LVIDd, LVIDs ↓ Abnormal vocalisation, decreased grip strength, abnormal motor capabilities/coordination/movement, hypoactivity, small superior vagus ganglion Limited or no NPD annotations
Spred3 HRV ↑ Increased freezing behavior, decreased prepulse inhibition Limited or no NPD annotations
Grm7 HR ↓,RR ↑ Hyperactivity, increased grip, decreased anxiety-related behavior, limb grasping Recurrent major depressive disorder, Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia, Personality traits in bipolar disorder, Major depressive disorder (broad), Panic disorder, Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities
Cyp27a1 HR,QRS↓,RR ↑ No Limited or no NPD annotations
Agpat1 HR ↓,rMSSD, RR, HRV ↑ No Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia, Autism spectrum disorder or schizophrenia
Ctsd ST,RR ↑ No neuronal ceroid lipofuscinosis
P3h1 HR ↓,RR ↑ Decreased grip strength Limited or no NPD annotations
Pnmt QTc Dispersion, rMSSD ↑ Increased startle response, decreased exploration of novel environment, decreased breath rate during sleep Limited or no NPD annotations

Table shows the top ECG genes with the highest expression in the cluster FF-ANS representing feedforward central autonomic network (CAN) brain structures from Allen Brain Atlas. Also shown are the ECG and behavioral phenotypes associated with the mouse knockout (KO) lines for each gene as well as the human neuropsychiatric disease annotations

HR heart rate, HRV heart rate variability, RR R-R interval, ST, QTc, QRS ST, QTc, QRS intervals in electrocardiogram (ECG), TTE transthoracic echocardiography, rMSSD root mean square of successive differences between heart beats, shaded indicates increased HR and/or decreased HRV phenotypes in the corresponding knockout mouse line in IMPC. Neuropsychiatric disease associations are italicised