Phenotype: small heart

Definition reduced size of the heart relative to average

Synonyms
  • decreased heart size
  • decreased heart size
  • reduced heart size
  • reduced heart size
Related
Synonyms
  • ventricular myocardium compact layer hypoplasia
  • ventricular myocardium compact layer hypoplasia
  • decreased heart right atrium weight
  • decreased heart right atrium weight
  • Hypoplasia of right ventricle
  • Hypoplastic left heart
  • Hypoplastic heart
  • ventricular hypoplasia
  • heart left ventricle hypoplasia
  • decreased heart left atrium weight
  • decreased heart left ventricle weight
  • heart right ventricle hypoplasia
  • Hypoplastic right heart
  • Hypoplastic right heart
  • decreased heart weight
  • Hypoplastic left heart
  • decreased heart right ventricle weight
  • heart hypoplasia
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Phenotype associations stats

1.09% of tested genes with null mutations on a B6N genetic background have a phenotype association to small heart (48/4400)

0.78% females (34/4348) 0.92% males (40/4358)

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Gene variants with small heart

Total number of significant genotype-phenotype associations: 75

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Cacna1i
Cacna1itm1b(KOMP)Wtsi
HOM Female postnatal small heart Gross Pathology and Tissue Collection | Heart BCM | IMPC 0.0
Ccdc124
Ccdc124tm1b(KOMP)Wtsi
HOM Female Male postnatal small heart Gross Pathology and Tissue Collection | Heart MARC | IMPC 0.0
Dagla
Daglatm1a(EUCOMM)Wtsi
HOM Male postnatal small heart Gross Pathology and Tissue Collection | Heart MARC | IMPC 0.0
Gh
Ghtm1.1(KOMP)Vlcg
HOM Female Male postnatal small heart Gross Pathology and Tissue Collection | Heart UC Davis | IMPC 0.0
Hectd3
Hectd3tm1(NCOM)Cmhd
HOM Female Male postnatal small heart Gross Pathology and Tissue Collection | Heart MARC | IMPC 0.0
Kdm1a
Kdm1atm1(NCOM)Mfgc
HET Female postnatal small heart Gross Pathology and Tissue Collection | Heart MARC | IMPC 0.0
Lhcgr
Lhcgrtm1(KOMP)Vlcg
HOM Male postnatal small heart Gross Pathology and Tissue Collection | Heart MARC | IMPC 0.0
Slc6a2
Slc6a2tm1b(EUCOMM)Hmgu
HOM Female postnatal small heart Gross Pathology and Tissue Collection | Heart MRC Harwell | IMPC 0.0
Ssbp2
Ssbp2tm1b(KOMP)Wtsi
HOM Female postnatal small heart Gross Pathology and Tissue Collection | Heart UC Davis | IMPC 0.0
Trh
Trhem1(IMPC)Tcp
HOM Male postnatal small heart Gross Pathology and Tissue Collection | Heart TCP | IMPC 0.0
Wnt5b
Wnt5btm1.1(KOMP)Vlcg
HOM Male postnatal small heart Gross Pathology and Tissue Collection | Heart UC Davis | IMPC 0.0
Lepr
Leprtm1b(EUCOMM)Wtsi
HOM Female Male postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 1.88E-39
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight WTSI | IMPC 5.62E-11
Ghrhr
Ghrhrtm1.1(KOMP)Vlcg
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight JAX | IMPC 3.93E-9
Cyp17a1
Cyp17a1tm1b(EUCOMM)Wtsi
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight MARC | IMPC 2.17E-8
Trh
Trhem1(IMPC)Tcp
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight TCP | IMPC 1.07E-7
Kiss1r
Kiss1rtm1.1(KOMP)Vlcg
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight UC Davis | IMPC 1.15E-7
Mtmr12
Mtmr12tm1b(KOMP)Wtsi
HOM Male postnatal decreased heart weight Heart Weight | Heart weight ICS | IMPC 9.73E-7
Tlr4
Tlr4tm1.1(KOMP)Vlcg
HOM Male postnatal decreased heart weight Heart Weight | Heart weight UC Davis | IMPC 1.8E-6
Il2ra
Il2ratm1b(EUCOMM)Wtsi
HOM Male postnatal decreased heart weight Heart Weight | Heart weight ICS | IMPC 2.24E-6
Ppp2r5e
Ppp2r5eem1(IMPC)Marc
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight MARC | IMPC 2.45E-6
Klhl29
Klhl29tm1b(EUCOMM)Hmgu
HOM Male postnatal decreased heart weight Heart Weight | Heart weight ICS | IMPC 8.56E-6
Snip1
Snip1tm1a(EUCOMM)Wtsi
HET Female postnatal decreased heart weight Heart weight/tibia length | Heart weight MRC Harwell | EuroPhenome 9.07E-6
Acsl4
Acsl4tm1a(EUCOMM)Wtsi
HET Female postnatal decreased heart weight Heart Dissection | Heart weight WTSI | MGP 1.13E-5
Dync1h1
Dync1h1tm1dIcs
HET Male postnatal decreased heart weight Heart Weight | Heart weight ICS | IMPC 1.21E-5
Ube3c
Ube3ctm1b(EUCOMM)Hmgu
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight RBRC | IMPC 1.22E-5
Grin2d
Grin2dtm1a(EUCOMM)Wtsi
HOM Female Male postnatal decreased heart weight Heart weight/tibia length | Heart weight MRC Harwell | EuroPhenome 1.25E-5
Mmp9
Mmp9tm1b(EUCOMM)Wtsi
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight ICS | IMPC 1.42E-5
Cybrd1
Cybrd1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 1.71E-5
Ly6g6d
Ly6g6dtm1b(EUCOMM)Hmgu
HOM Male postnatal decreased heart weight Heart Weight | Heart weight HMGU | IMPC 1.82E-5
Gpr61
Gpr61em1(IMPC)Bay
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight BCM | IMPC 2.57E-5
Coq2
Coq2tm1b(EUCOMM)Hmgu
HET Female Male postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 2.64E-5
Nr1h3
Nr1h3tm1.1(KOMP)Vlcg
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight UC Davis | IMPC 2.87E-5
Fndc9
Fndc9tm1.1(KOMP)Vlcg
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight UC Davis | IMPC 3.03E-5
Slc38a10
Slc38a10tm1a(EUCOMM)Wtsi
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight WTSI | IMPC 3.04E-5
Sparc
Sparctm1a(EUCOMM)Wtsi
HOM Male postnatal decreased heart weight Heart weight/tibia length | Heart weight WTSI | EuroPhenome 3.3E-5
Pink1
Pink1tm1b(EUCOMM)Wtsi
HOM Female postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 3.46E-5
Mbtd1
Mbtd1tm2a(EUCOMM)Wtsi
HET Female Male postnatal decreased heart weight Heart Dissection | Heart weight WTSI | MGP 4.76E-5
Bbs5
Bbs5tm1b(EUCOMM)Wtsi
HOM Female Male postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 4.94E-5
Ap4e1
Ap4e1tm1b(KOMP)Wtsi
HOM Female postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 5.08E-5
P2rx4
P2rx4tm1b(EUCOMM)Wtsi
HOM Male postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 6.3E-5
Ccdc57
Ccdc57tm1a(EUCOMM)Wtsi
HET Male postnatal decreased heart weight Heart Dissection | Heart weight WTSI | MGP 7.08E-5
Prf1
Prf1tm1.1(KOMP)Vlcg
HOM Male postnatal decreased heart weight Heart Weight | Heart weight UC Davis | IMPC 7.75E-5
Fbxo38
Fbxo38em2(IMPC)Marc
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight MARC | IMPC 8.29E-5
Kctd13
Kctd13em2(IMPC)Ics
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight ICS | IMPC 8.36E-5
Hnrnpr
Hnrnprem1(IMPC)Marc
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight MARC | IMPC 8.39E-5
Vwa1
Vwa1tm1.1(KOMP)Vlcg
HOM Female Male postnatal decreased heart weight Heart Weight | Heart weight UC Davis | IMPC 8.71E-5
Il31ra
Il31ratm1b(EUCOMM)Hmgu
HOM Female Male postnatal decreased heart weight Organ Weight | Heart weight MRC Harwell | IMPC 9.31E-5
Clstn2
Clstn2em1(IMPC)J
HOM Male postnatal decreased heart weight Heart Weight | Heart weight JAX | IMPC 9.83E-5

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