Genes Phenotypes

Phenotype: increased cardiac muscle contractility

Definition
greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume
Synonyms
increased cardiac muscle contraction,  increased fractional shortening (FS),  increased peak of aortic outflow velocity (PAV),  increased velocity of circumferential fiber shortening (Vcfc),  increased velocity of circumferential fibre shortening (Vcfc),  increased ventricular ejection fraction volume
Significant gene associations The way we measure Phenotype stats
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with increased cardiac muscle contractility

Total number of significant genotype-phenotype associations: 15

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value
Prdm4
Prdm4tm1b(EUCOMM)Hmgu 		HOM postnatal increased cardiac muscle contractility Echo | Fractional Shortening MRC Harwell | IMPC 2.70×10-10
Ap4e1
Ap4e1tm1b(KOMP)Wtsi 		HOM postnatal increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 1.51×10-06
Fzd8
Fzd8em1(IMPC)Bay 		HOM postnatal increased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 2.37×10-06
Klhl29
Klhl29tm1b(EUCOMM)Hmgu 		HOM postnatal increased cardiac muscle contractility Echo | Fractional Shortening ICS | IMPC 2.87×10-06
Ccdc114
Ccdc114tm2b(EUCOMM)Wtsi 		HET postnatal increased cardiac muscle contractility Echo | Ejection Fraction BCM | IMPC 4.88×10-06
Ppp2r2a
Ppp2r2atm1b(KOMP)Wtsi 		HET postnatal increased cardiac muscle contractility Echo | Fractional Shortening MARC | IMPC 7.65×10-06
Pax5
Pax5tm1b(EUCOMM)Wtsi 		HET postnatal increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 2.05×10-05
Tmem108
Tmem108tm1b(EUCOMM)Wtsi 		HOM postnatal increased cardiac muscle contractility Echo | Fractional Shortening ICS | IMPC 3.60×10-05
Rnf10
Rnf10tm1b(KOMP)Wtsi 		HET postnatal increased cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 7.32×10-05
Hmcn2
Hmcn2tm1b(EUCOMM)Wtsi 		HOM postnatal increased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 9.74×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Echo

 Phenotype associations stats

0.76% of tested genes with null mutations on a B6N genetic background have a phenotype association to increased cardiac muscle contractility (10/1313)

0.62% females (8/1298) 0.68% males (7/1024)

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