Phenotype: abnormal cardiac muscle contractility

Definition
altered 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
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal cardiac muscle contractility

Total number of significant genotype-phenotype associations: 50

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value
Klhl29
Klhl29tm1b(EUCOMM)Hmgu
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening ICS | IMPC 0.00
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction MRC Harwell | IMPC 5.76×10-13
Dsg2
Dsg2tm1b(EUCOMM)Wtsi
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 2.32×10-10
Fbxo10
Fbxo10tm1b(KOMP)Wtsi
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening MARC | IMPC 5.49×10-09
Prdm4
Prdm4tm1b(EUCOMM)Hmgu
HOM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction MRC Harwell | IMPC 8.95×10-09
Scarb1
Scarb1tm1b(EUCOMM)Wtsi
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 1.30×10-07
Ints6l
Ints6lem1(IMPC)Marc
HEM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction MARC | IMPC 1.55×10-07
Ap4e1
Ap4e1tm1b(KOMP)Wtsi
HOM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 1.64×10-07
Nxn
Nxntm1a(EUCOMM)Wtsi
HET Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 2.49×10-07
Avpi1
Avpi1tm1b(EUCOMM)Hmgu
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 2.62×10-07
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 abnormal cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 1.63×10-06
Efcab14
Efcab14tm1b(KOMP)Wtsi
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 6.44×10-06
Abhd3
Abhd3em1(IMPC)Marc
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening MARC | IMPC 8.31×10-06
Hilpda
Hilpdaem1(IMPC)Mhzh
HOM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction MARC | IMPC 8.34×10-06
Nr1d1
Nr1d1tm1(KOMP)Vlcg
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 8.51×10-06
Ap4e1
Ap4e1tm1b(KOMP)Wtsi
HOM Early adult increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 9.03×10-06
Pax5
Pax5tm1b(EUCOMM)Wtsi
HET Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 9.80×10-06
Lmo1
Lmo1tm1b(KOMP)Mbp
HOM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 1.29×10-05
Avpi1
Avpi1tm1b(EUCOMM)Hmgu
HOM Early adult increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 2.76×10-05
Tfap2b
Tfap2btm1b(EUCOMM)Wtsi
HET Early adult increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 3.16×10-05
Scarb1
Scarb1tm1b(EUCOMM)Wtsi
HOM Early adult decreased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 3.36×10-05
Zfp235
Zfp235tm1b(KOMP)Wtsi
HOM Early adult increased cardiac muscle contractility Echo | Fractional Shortening BCM | IMPC 3.87×10-05
Pex1
Pex1tm1e.1(EUCOMM)Hmgu
HET Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 4.37×10-05
Fzd8
Fzd8em1(IMPC)Bay
HOM Early adult increased cardiac muscle contractility Echo | Ejection Fraction BCM | IMPC 4.81×10-05
Csnk1g2
Csnk1g2tm1b(EUCOMM)Wtsi
HOM Early adult increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 4.99×10-05
Aoc1
Aoc1tm1b(EUCOMM)Hmgu
HOM Early adult increased cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 5.98×10-05
Gsdmd
Gsdmdem1(IMPC)Marc
HOM Early adult abnormal cardiac muscle contractility Echo | Ejection Fraction MARC | IMPC 6.12×10-05
Sdc2
Sdc2tm1b(KOMP)Wtsi
HOM Early adult increased cardiac muscle contractility Echo | Ejection Fraction HMGU | IMPC 7.04×10-05
Yae1d1
Yae1d1tm1b(EUCOMM)Hmgu
HET Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 7.81×10-05
Gzmk
Gzmktm1b(KOMP)Wtsi
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening ICS | IMPC 8.11×10-05
Yae1d1
Yae1d1tm1b(EUCOMM)Hmgu
HET Early adult increased cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 8.15×10-05
Aoc1
Aoc1tm1b(EUCOMM)Hmgu
HOM Early adult abnormal cardiac muscle contractility Echo | Fractional Shortening HMGU | IMPC 9.83×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Echo

 Phenotype associations stats

1.69% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal cardiac muscle contractility (27/1597)

0.71% females (11/1548) 0.86% males (11/1285)

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