Phenotype: abnormal bone mineralization

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

Related
Synonyms
  • abnormal bone calcification
  • abnormal bone calcification
  • abnormal bone mineralization involved in bone maturation
  • abnormal bone mineralization involved in bone maturation
  • adult rickets
  • decreased bone mineralization
  • delayed bone mineralization
  • increased bone mineralization
  • increased osteoid amount
  • late rickets
  • osteomalacia
  • rachitis tarda
  • rickets
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Phenotype associations stats

1.21% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal bone mineralization (42/3470)

0.96% females (33/3440) 1.07% males (37/3449)

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Gene variants with abnormal bone mineralization

Total number of significant genotype-phenotype associations: 73

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Akt2
Akt2tm1Wcs
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 4.9E-17
Ctnnb1
Ctnnb1Bfc
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.24E-12
Xylb
Xylbtm1a(EUCOMM)Hmgu
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.6E-11
Ostes
Ostes
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 5.82E-11
Acp2
Acp2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.19E-10
Phex
Phexnot yet available
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight HMGU | EuroPhenome 2.83E-10
Kcnj16
Kcnj16tm1Sjtu
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.73E-10
Mir96
Mir96Dmdo
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content WTSI | EuroPhenome 1.13E-9
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
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
Pbx3
Pbx3tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.08E-7
Parvb
Parvbtm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 2.28E-7
Elk4
Elk4tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.0E-7
Pgd
Pgdtm1a(EUCOMM)Wtsi
HET Male postnatal abnormal bone mineralization DEXA | BMC/Body weight ICS | EuroPhenome 3.72E-7
Rxrg
Rxrg
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight ICS | EuroPhenome 6.28E-7
Ablim1
Ablim1tm1H
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.26E-6
Dhx40
Dhx40tm1(NCOM)Cmhd
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content CMHD | EuroPhenome 1.58E-6
Epc1
Epc1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 1.6E-6
Epc1
Epc1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight WTSI | EuroPhenome 1.6E-6
Aldh2
Aldh2tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.77E-6
Ttll4
Ttll4tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 2.04E-6
Grin2d
Grin2dtm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 3.65E-6
Nmnat1
Nmnat1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 5.47E-6
Mrps35
Mrps35tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal bone mineralization DEXA | BMC/Body weight ICS | EuroPhenome 5.62E-6
Cyb561
Cyb561tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 7.41E-6
Fgl1
Fgl1tm1a(EUCOMM)Hmgu
HOM Male postnatal abnormal bone mineralization DEXA | BMC/Body weight ICS | EuroPhenome 9.15E-6
Fbxo11
Fbxo11Jf
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 1.12E-5
Tnfaip1
Tnfaip1tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.26E-5
Tbc1d2b
Tbc1d2btm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.59E-5
Plcg2
Plcg2Ali14
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content HMGU | EuroPhenome 1.6E-5
D430041D05Rik
D430041D05Riktm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.64E-5
Rhbdf2
Rhbdf2not yet available
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 1.75E-5
Fam117b
Fam117btm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 1.86E-5
Mta1
Mta1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content WTSI | EuroPhenome 1.96E-5
Mpi
Mpitm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 2.16E-5
Per2
Per2tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight MRC Harwell | EuroPhenome 3.55E-5
Xbp1
Xbp1tm1a(EUCOMM)Wtsi
HET Female Male postnatal abnormal bone mineralization DEXA | BMC/Body weight HMGU | EuroPhenome 4.29E-5
Rhbdd1
Rhbdd1tm1.1Mfm
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 4.67E-5
Babam2
Babam2tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 6.48E-5
Slc38a10
Slc38a10tm2a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 7.9E-5
Ankrd11
Ankrd11Yod
HET Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 8.26E-5
Sfrp2
Sfrp2tm1Aksh
HOM Female Male postnatal abnormal bone mineralization DEXA | Bone Mineral Content MRC Harwell | EuroPhenome 8.58E-5

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