Phenotype: decreased cardiac muscle contractility

Definition
inability or reduced 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
impaired cardiac contractility,  reduced cardiac muscle contractility,  impaired cardiac muscle contractility,  decreased cardiac muscle contraction,  reduced cardiac contractility
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with decreased cardiac muscle contractility

Total number of significant genotype-phenotype associations: 14

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM Early adult decreased cardiac muscle contractility Echo | Ejection Fraction MRC Harwell | IMPC 1.23×10-13
Fbxo10
Fbxo10tm1b(KOMP)Wtsi
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening MARC | IMPC 1.43×10-08
Ints6l
Ints6lem1(IMPC)Marc
HEM Early adult decreased cardiac muscle contractility Echo | Ejection Fraction MARC | IMPC 1.82×10-07
Nxn
Nxntm1a(EUCOMM)Wtsi
HET Early adult decreased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 2.49×10-07
Dsg2
Dsg2tm1b(EUCOMM)Wtsi
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 6.05×10-07
Klrb1
Klrb1tm1b(EUCOMM)Wtsi
HOM Early adult decreased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 4.30×10-06
Hilpda
Hilpdaem1(IMPC)Mhzh
HOM Early adult decreased cardiac muscle contractility Echo | Ejection Fraction MARC | IMPC 5.50×10-06
Efcab14
Efcab14tm1b(KOMP)Wtsi
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 6.44×10-06
Nr1d1
Nr1d1tm1(KOMP)Vlcg
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 8.51×10-06
Abhd3
Abhd3em1(IMPC)Marc
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening MARC | IMPC 1.50×10-05
Gsdmd
Gsdmdem1(IMPC)Marc
HOM Early adult decreased cardiac muscle contractility Echo | Ejection Fraction MARC | IMPC 1.50×10-05
Scarb1
Scarb1tm1b(EUCOMM)Wtsi
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 3.36×10-05
Pex1
Pex1tm1e.1(EUCOMM)Hmgu
HET Early adult decreased cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 4.74×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Echo

 Phenotype associations stats

0.79% of tested genes with null mutations on a B6N genetic background have a phenotype association to decreased cardiac muscle contractility (13/1653)

0.49% females (8/1632) 0.15% males (2/1359)

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