Phenotype: abnormal bone mineralization

Definition defect in the process by which minerals are deposited into bone

Related
Synonyms
  • abnormal bone mineralization involved in bone maturation
  • abnormal bone mineralization involved in bone maturation
  • osteomalacia
  • osteomalacia
  • decreased bone mineralization
  • Osteomalacia
  • Rickets of the lower limbs
  • increased bone mineralization
  • Rickets of the lower limbs
  • rickets
  • Rickets
  • Hypophosphatemic rickets
  • delayed bone mineralization
  • Hypophosphatemic rickets
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MP browserMP:0002896

Phenotype associations stats

1.34% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal bone mineralization (55/4110)

1.13% females (46/4077) 1.20% males (49/4095)

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Gene variants with abnormal bone mineralization

Total number of significant genotype-phenotype associations: 99

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Ostes
Ostes
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 6.53E-25
Akt2
Akt2tm1Wcs
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 4.9E-17
Acp2
Acp2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 2.08E-14
Kcnj16
Kcnj16tm1Sjtu
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.38E-13
Ctnnb1
Ctnnb1Bfc
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.24E-12
Grin2d
Grin2dtm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 9.18E-11
Sfrp2
Sfrp2C50F
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 2.17E-10
Phex
Phexnot yet available
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight HMGU | EuroPhenome 2.83E-10
Elk4
Elk4tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 2.97E-10
Xylb
Xylbtm1a(EUCOMM)Hmgu
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 4.21E-10
Ankrd11
Ankrd11Yod
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 5.76E-10
Mir96
Mir96Dmdo
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content WTSI | EuroPhenome 1.13E-9
Parvb
Parvbtm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.07E-8
Myo7a
Myo7aHdb
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 1.27E-8
Rnf169
Rnf169tm1a(EUCOMM)Hmgu
HOM Female postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 1.47E-8
Sfrp2
Sfrp2I153N
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.62E-8
BC055324
BC055324tm1a(EUCOMM)Hmgu
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 1.63E-8
Mta1
Mta1tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 1.75E-8
Sfrp2
Sfrp2tm1Aksh
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.38E-8
Xbp1
Xbp1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content HMGU | EuroPhenome 8.14E-8
Ablim1
Ablim1tm1H
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.02E-7
Pgd
Pgdtm1a(EUCOMM)Wtsi
HET Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content ICS | MGP 1.63E-7
Rxrg
Rxrg
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight ICS | EuroPhenome 6.28E-7
Aldh2
Aldh2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 7.28E-7
Nmnat1
Nmnat1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 9.81E-7
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content HMGU | MGP 1.15E-6
Epc1
Epc1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 1.6E-6
Fbxo11
Fbxo11Jf
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.71E-6
Mrps35
Mrps35tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content ICS | MGP 4.21E-6
Cisd2
Cisd2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 4.36E-6
Rhbdd1
Rhbdd1tm1.1Mfm
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 4.82E-6
Babam2
Babam2tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 5.14E-6
Fgl1
Fgl1tm1a(EUCOMM)Hmgu
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content ICS | MGP 6.37E-6
Ttll4
Ttll4tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 6.92E-6
Sfrp1
Sfrp1tm1Aksh
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 6.96E-6
Cyb561
Cyb561tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 7.41E-6
Dhx40
Dhx40tm1(NCOM)Cmhd
HOM Male postnatal abnormal bone mineralization DEXA | BMC/Body weight CMHD | EuroPhenome 7.8E-6
Slc38a10
Slc38a10tm2a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 8.48E-6
D430041D05Rik
D430041D05Riktm1a(EUCOMM)Hmgu
HOM Female postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.12E-5
Prss50
Prss50tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.18E-5
Plcg2
Plcg2Ali14
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content HMGU | EuroPhenome 1.6E-5
Fam117b
Fam117btm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 1.86E-5
Rhbdf2
Rhbdf2not yet available
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 2.14E-5
Mpi
Mpitm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 2.16E-5
Gnas
Gnastm1Jop
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.04E-5
March9
March9tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.07E-5
Tnfaip1
Tnfaip1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.23E-5
Per2
Per2tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 3.55E-5
Ddx52
Ddx52tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content ICS | MGP 4.48E-5
Cul7
Cul7tm1a(EUCOMM)Wtsi
HET Female postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 4.68E-5
Gse1
Gse1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 5.95E-5
Gna11
Gna11tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 7.11E-5
2810408A11Rik
2810408A11Riktm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 8.18E-5
Vangl2
Vangl2Lp
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 8.24E-5
Tbc1d2b
Tbc1d2btm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 8.3E-5
Clk1
Clk1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 9.31E-5
Ric1
Ric1tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 9.47E-5

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