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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
Significant gene associations The way we measure Phenotype stats
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: 47

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Zfp280d
Zfp280dem1(IMPC)Hmgu 		HOM Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 HMGU
IMPC		 2.66×10-32
Mpp3
Mpp3tm1b(EUCOMM)Wtsi 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 MRC Harwell
IMPC		 1.23×10-11
Prdm4
Prdm4tm1b(EUCOMM)Hmgu 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 MRC Harwell
IMPC		 9.43×10-10
Fbxo10
Fbxo10tm1b(KOMP)Wtsi 		HOM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 MARC
IMPC		 5.49×10-09
Alpk3
Alpk3tm1b(EUCOMM)Hmgu 		HOM Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 MRC Harwell
IMPC		 5.90×10-08
Ints6l
Ints6lem1(IMPC)Marc 		HEM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 MARC
IMPC		 3.97×10-07
Baiap2l2
Baiap2l2tm1a(EUCOMM)Hmgu 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 4.75×10-07
Wars1
Wars1tm1b(EUCOMM)Hmgu 		HET Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 HMGU
IMPC		 8.24×10-07
Pex1
Pex1tm1e.1(EUCOMM)Hmgu 		HET Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 HMGU
IMPC		 1.03×10-06
Prss48
Prss48em1(IMPC)Ccpcz 		HOM   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 CCP-IMG
IMPC		 1.10×10-06
Ap4e1
Ap4e1tm1b(KOMP)Wtsi 		HOM Early adult increased cardiac muscle contractility Ejection Fraction
Echo		 HMGU
IMPC		 1.19×10-06
Calb1
Calb1em1(IMPC)Ccpcz 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 CCP-IMG
IMPC		 1.34×10-06
Dsg2
Dsg2tm1b(EUCOMM)Wtsi 		HOM   Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 BCM
IMPC		 2.12×10-06
Ufm1
Ufm1em1(IMPC)Marc 		HET Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 MARC
IMPC		 2.83×10-06
Nxn
Nxntm1a(EUCOMM)Wtsi 		HET Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 BCM
IMPC		 4.43×10-06
Clec9a
Clec9atm1b(KOMP)Wtsi 		HOM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 5.90×10-06
Bms1
Bms1tm1b(EUCOMM)Hmgu 		HET   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 HMGU
IMPC		 7.68×10-06
Ccr2
Ccr2em1(IMPC)H 		HOM Late adult increased cardiac muscle contractility Fractional Shortening
Echo		 MRC Harwell
IMPC		 1.24×10-05
Hilpda
Hilpdaem1(IMPC)Mhzh 		HOM Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 MARC
IMPC		 1.26×10-05
Avpi1
Avpi1tm1b(EUCOMM)Hmgu 		HOM   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 HMGU
IMPC		 1.34×10-05
Sh3tc1
Sh3tc1tm1b(EUCOMM)Hmgu 		HOM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 2.09×10-05
Izumo2
Izumo2em1(IMPC)Bay 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 BCM
IMPC		 2.10×10-05
4933430I17Rik
4933430I17Riktm1b(EUCOMM)Wtsi 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 2.26×10-05
Abhd3
Abhd3em1(IMPC)Marc 		HOM   Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 MARC
IMPC		 2.40×10-05
Pard3b
Pard3btm1b(EUCOMM)Wtsi 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 HMGU
IMPC		 2.50×10-05
Csnk1g2
Csnk1g2tm1b(EUCOMM)Wtsi 		HOM   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 HMGU
IMPC		 2.62×10-05
Abitram
Abitramtm1b(EUCOMM)Wtsi 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 BCM
IMPC		 2.62×10-05
Tincr
Tincrem1(IMPC)Ccpcz 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 CCP-IMG
IMPC		 3.04×10-05
Cav1
Cav1em2(IMPC)Ics 		HOM   Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 3.40×10-05
Ncam2
Ncam2tm1b(EUCOMM)Hmgu 		HOM   Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 4.17×10-05
Ndrg4
Ndrg4tm1b(KOMP)Wtsi 		HOM Early adult decreased cardiac muscle contractility Ejection Fraction
Echo		 MRC Harwell
IMPC		 4.36×10-05
Abcg8
Abcg8tm1b(KOMP)Wtsi 		HOM   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 CCP-IMG
IMPC		 4.41×10-05
Wsb2
Wsb2tm1b(EUCOMM)Hmgu 		HOM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 HMGU
IMPC		 4.52×10-05
Asb7
Asb7em1(IMPC)Ccpcz 		HOM   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 CCP-IMG
IMPC		 4.74×10-05
Fzd8
Fzd8em1(IMPC)Bay 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 BCM
IMPC		 4.84×10-05
Sall3
Sall3tm1.1(KOMP)Mbp 		HET Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 CCP-IMG
IMPC		 4.91×10-05
Anpep
Anpepem1(IMPC)Hmgu 		HOM   Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 HMGU
IMPC		 5.29×10-05
Eftud2
Eftud2tm1b(KOMP)Wtsi 		HET   Late adult increased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 5.81×10-05
Tmprss2
Tmprss2tm2b(EUCOMM)Hmgu 		HOM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 6.08×10-05
Klhl29
Klhl29tm1b(EUCOMM)Hmgu 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 6.26×10-05
Kcng2
Kcng2em1(IMPC)Bay 		HOM Early adult decreased cardiac muscle contractility Fractional Shortening
Echo		 BCM
IMPC		 7.76×10-05
Zfp235
Zfp235tm1b(KOMP)Wtsi 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 BCM
IMPC		 7.86×10-05
Cdc26
Cdc26tm1b(EUCOMM)Hmgu 		HET Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 ICS
IMPC		 8.44×10-05
Hectd3
Hectd3tm1(NCOM)Cmhd 		HOM Early adult increased cardiac muscle contractility Fractional Shortening
Echo		 MARC
IMPC		 8.53×10-05
Leprotl1
Leprotl1tm1b(EUCOMM)Hmgu 		HOM Early adult increased cardiac muscle contractility Ejection Fraction
Echo		 MRC Harwell
IMPC		 9.87×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Echo

 Phenotype associations stats

2.04% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal cardiac muscle contractility (45/2202)

0.96% females (21/2188) 0.73% males (14/1909)

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