Phenotype: increased mean corpuscular volume

Definition greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices

Synonyms
  • increased MCV
  • increased MCV
  • high mean corpuscular volume
  • high mean corpuscular volume
  • high MCV
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Related
Synonyms
  • Macrocytic dyserythropoietic anemia
  • Macrocytic dyserythropoietic anemia
  • Thiamine-responsive megaloblastic anemia
  • Thiamine-responsive megaloblastic anemia
  • Hyperchromic macrocytic anemia
  • Megaloblastic anemia
  • hypochromic macrocytic anemia
  • Folate-responsive megaloblastic anemia
  • Megaloblastic anemia
  • Thiamine-responsive megaloblastic anemia
  • hyperchromic macrocytic anemia
  • hypochromic macrocytic anemia
  • Hyperchromic macrocytic anemia
  • Folate-unresponsive megaloblastic anemia
  • Folate-unresponsive megaloblastic anemia
  • Folate-responsive megaloblastic anemia
  • Refractory macrocytic anemia
  • macrocytic anemia
  • Pyrimidine-responsive megaloblastic anemia
  • Macrocytic anemia
  • Macrocytic dyserythropoietic anemia
  • hyperchromic macrocytic anemia
  • Pyrimidine-responsive megaloblastic anemia
  • Refractory macrocytic anemia
Show more

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Phenotype associations stats

2.53% of tested genes with null mutations on a B6N genetic background have a phenotype association to increased mean corpuscular volume (99/3913)

2.12% females (82/3866) 2.24% males (87/3876)

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Gene variants with increased mean corpuscular volume

Total number of significant genotype-phenotype associations: 171

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Fam53b
Fam53btm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 0.0
Knstrn
Knstrntm1b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume ICS | IMPC 0.0
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume WTSI | EuroPhenome 0.0
Slc29a1
Slc29a1tm2b(NCOM)Mfgc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume TCP | IMPC 3.41E-28
Hfe2
Hfe2tm1b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 4.48E-19
Ppp1cc
Ppp1ccem1(IMPC)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 1.91E-18
Csnk1g2
Csnk1g2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 8.09E-18
Trim8
Trim8em1(IMPC)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 1.84E-16
Pnpt1
Pnpt1tm1a(KOMP)Wtsi
HET Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 7.64E-16
Cdk5rap2
Cdk5rap2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 3.97E-14
Ppp2r5e
Ppp2r5eem1(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 1.51E-13
Hnrnph1
Hnrnph1tm1b(KOMP)Wtsi
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 4.15E-13
Fbxw13
Fbxw13em2(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 6.87E-13
Mysm1
Mysm1tm1a(KOMP)Wtsi
HET Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | EuroPhenome 1.47E-12
Brcc3
Brcc3em1(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 3.95E-12
Cdh23
Cdh23tm2b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 9.98E-12
Cpa1
Cpa1em1(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 3.52E-11
Tfr2
Tfr2em1(IMPC)Rbrc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume RBRC | IMPC 5.58E-11
Dkk3
Dkk3tm1Cni
HOM Male postnatal increased mean corpuscular volume Haematology (GMC) | Mean corpuscular volume HMGU | EuroPhenome 1.22E-10
Chn1
Chn1tm1.1(KOMP)Vlcg
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 4.38E-10
Bbs5
Bbs5tm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 4.67E-10
Hnrnpr
Hnrnprem1(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 5.5E-10
Usp15
Usp15tm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 1.61E-9
Usmg5
Usmg5tm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 3.99E-9
Slc44a5
Slc44a5tm1a(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | MGP 6.4E-9
Bhlhe40
Bhlhe40tm1b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 8.24E-9
Ric1
Ric1tm1a(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 1.6E-8
Osm
Osmtm1b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 3.06E-8
Pde6b
Pde6b
HOM Female Male postnatal increased mean corpuscular volume Haematology (GMC) | Mean corpuscular volume HMGU | EuroPhenome 4.37E-8
Itch
Itchtm1(NCOM)Cmhd
HET Female postnatal increased mean corpuscular volume Haematology | Mean cell volume CMHD | EuroPhenome 7.59E-8
Fbxl20
Fbxl20tm1b(KOMP)Wtsi
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 8.27E-8
Bmp7
Bmp7tm1a(EUCOMM)Hmgu
HET Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 1.05E-7
Atp6v1c1
Atp6v1c1tm1b(NCOM)Mfgc
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume TCP | IMPC 1.61E-7
Adprhl2
Adprhl2em1(IMPC)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 1.96E-7
Elmod1
Elmod1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 2.12E-7
Tbc1d4
Tbc1d4tm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 2.72E-7
Phf5a
Phf5aem2(IMPC)Marc
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 4.12E-7
Nutm1
Nutm1tm1b(KOMP)Wtsi
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 6.37E-7
Nmnat1
Nmnat1tm1a(EUCOMM)Wtsi
HET Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 8.01E-7
Lepr
Leprtm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 9.35E-7
Parl
Parltm1a(EUCOMM)Hmgu
HET Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 9.49E-7
Arpc4
Arpc4tm1a(EUCOMM)Wtsi
HET Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 1.01E-6
Slc38a10
Slc38a10tm2a(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | EuroPhenome 1.03E-6
Kif20a
Kif20atm1b(EUCOMM)Hmgu
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 1.04E-6
Aspa
Aspatm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 1.11E-6
Nr1i2
Nr1i2
HOM Male postnatal increased mean corpuscular volume Haematology | Mean cell volume ICS | EuroPhenome 1.18E-6
Aldh3a2
Aldh3a2tm1a(EUCOMM)Wtsi
HOM Male postnatal increased mean corpuscular volume Haematology | Mean cell volume ICS | EuroPhenome 1.28E-6
Gpr182
Gpr182tm2b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume UC Davis | IMPC 1.72E-6
Foxo3
Foxo3tm1.1(KOMP)Vlcg
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 1.86E-6
Serpinb5
Serpinb5tm1b(KOMP)Wtsi
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 1.87E-6
Rab43
Rab43tm1.1(KOMP)Vlcg
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 2.1E-6
Spns2
Spns2tm1b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 2.15E-6
Tmem189
Tmem189tm1a(KOMP)Wtsi
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 2.46E-6
Kcnb1
Kcnb1tm1b(EUCOMM)Hmgu
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 2.48E-6
Gatsl3
Gatsl3tm1.1(KOMP)Vlcg
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume UC Davis | IMPC 4.07E-6
Ldlr
Ldlrtm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 4.53E-6
Sox13
Sox13tm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume ICS | EuroPhenome 5.03E-6
Thsd1
Thsd1tm1.1(KOMP)Vlcg
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 6.27E-6
Fgf11
Fgf11tm1a(EUCOMM)Wtsi
HOM Female postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 7.32E-6
Nptn
Nptntm1b(EUCOMM)Hmgu
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 8.0E-6
Esyt3
Esyt3tm1b(EUCOMM)Wtsi
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 9.24E-6
Ceacam3
Ceacam3em1(IMPC)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 9.89E-6
Btrc
Btrctm1b(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 1.2E-5
Epb41l5
Epb41l5tm1a(EUCOMM)Hmgu
HET Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 1.66E-5
Pa2g4
Pa2g4tm1a(EUCOMM)Wtsi
HET Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | EuroPhenome 2.21E-5
Kcnk13
Kcnk13em1(IMPC)H
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 2.35E-5
Nipsnap1
Nipsnap1tm1a(EUCOMM)Wtsi
HOM Male postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | EuroPhenome 2.45E-5
Nacc1
Nacc1em1(IMPC)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 2.94E-5
Epc1
Epc1tm1a(EUCOMM)Wtsi
HET Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume WTSI | EuroPhenome 2.98E-5
Fes
Festm1b(EUCOMM)Hmgu
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 3.02E-5
Eml1
Eml1em1(IMPC)Wtsi
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 3.1E-5
Clstn1
Clstn1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 3.41E-5
Fam210a
Fam210atm1b(EUCOMM)Wtsi
HET Male postnatal increased mean corpuscular volume Hematology | Mean cell volume TCP | IMPC 3.44E-5
Ly6g6d
Ly6g6dtm1b(EUCOMM)Hmgu
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 3.48E-5
Cystm1
Cystm1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 3.57E-5
Gjb3
Gjb3tm1.1(KOMP)Vlcg
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume UC Davis | IMPC 3.73E-5
Suv39h2
Suv39h2em1(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 3.73E-5
Xbp1
Xbp1tm1b(EUCOMM)Wtsi
HET Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 3.84E-5
Cbx7
Cbx7tm1a(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 3.88E-5
Areg
Aregtm2b(EUCOMM)Hmgu
HOM Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MRC Harwell | IMPC 4.32E-5
Trmt1
Trmt1tm1b(EUCOMM)Hmgu
HET Male postnatal increased mean corpuscular volume Hematology | Mean cell volume ICS | IMPC 4.45E-5
Atg4b
Atg4bem1(IMPC)Marc
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 4.62E-5
Rps6kl1
Rps6kl1tm1.1(KOMP)Vlcg
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 4.65E-5
Sorcs2
Sorcs2em1(IMPC)Marc
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume MARC | IMPC 4.77E-5
Rhou
Rhoutm1a(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 4.83E-5
BC055324
BC055324tm1a(EUCOMM)Hmgu
HET Female postnatal increased mean corpuscular volume Haematology | Mean cell volume MRC Harwell | MGP 4.98E-5
Alkbh8
Alkbh8tm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume HMGU | IMPC 5.25E-5
Igsf6
Igsf6em1(IMPC)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 5.29E-5
Rhobtb3
Rhobtb3tm1a(KOMP)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 5.4E-5
Plin2
Plin2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | EuroPhenome 5.58E-5
Gper1
Gper1tm1Dgen
HOM Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume HMGU | EuroPhenome 5.77E-5
Stard3
Stard3
HOM Female Male postnatal increased mean corpuscular volume Haematology | Mean cell volume ICS | EuroPhenome 5.92E-5
Ccdc33
Ccdc33tm1.1(KOMP)Vlcg
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume UC Davis | IMPC 6.18E-5
Abca13
Abca13tm1b(EUCOMM)Wtsi
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume BCM | IMPC 8.0E-5
Mepce
Mepcetm1.1(KOMP)Vlcg
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 8.37E-5
Trim25
Trim25tm2b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume WTSI | IMPC 8.77E-5
Kptn
Kptntm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased mean corpuscular volume Haematology test | Mean-cell-volume WTSI | MGP 8.81E-5
Aak1
Aak1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume ICS | IMPC 9.7E-5
Iqce
Iqcetm1b(EUCOMM)Hmgu
HOM Female postnatal increased mean corpuscular volume Hematology | Mean cell volume ICS | IMPC 9.8E-5
Dcaf10
Dcaf10tm1.1(KOMP)Vlcg
HOM Female Male postnatal increased mean corpuscular volume Hematology | Mean cell volume JAX | IMPC 9.86E-5

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