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Phenotype: abnormal skeleton physiology

Definition
any functional anomaly of the bony framework of the body
Synonyms
abnormal bone/ skeleton physiology,  bone/ skeletal physiology abnormalities
Significant gene associations The way we measure Phenotype stats
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal skeleton physiology

Total number of significant genotype-phenotype associations: 38

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Akt2
Akt2tm1Wcs 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 WTSI
MGP		 9.06×10-15
Myo7a
Myo7aHdb 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 WTSI
MGP		 1.80×10-11
Pgd
Pgdtm1a(EUCOMM)Wtsi 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 4.04×10-11
Phex
Phexnot yet available 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 HMGU
EuroPhenome		 1.11×10-09
Fgl1
Fgl1tm1a(EUCOMM)Hmgu 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 4.41×10-09
Rnf169
Rnf169tm1a(EUCOMM)Hmgu 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 4.71×10-09
Firrm
Firrmtm1a(EUCOMM)Hmgu 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 1.33×10-08
Ctnnb1
Ctnnb1Bfc 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 1.90×10-08
Mir96
Mir96Dmdo 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 WTSI
MGP		 3.46×10-08
Xylb
Xylbtm1a(EUCOMM)Hmgu 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 1.16×10-07
Mrps35
Mrps35tm1a(EUCOMM)Wtsi 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 2.39×10-07
Kcnj16
Kcnj16tm1Sjtu 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 2.70×10-07
Mysm1
Mysm1tm1a(KOMP)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 HMGU
EuroPhenome		 9.35×10-07
Rxrg
RxrgRxrg 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 1.04×10-06
Acp2
Acp2tm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 1.18×10-06
Fam117b
Fam117btm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 1.61×10-06
Smyd5
Smyd5tm1e(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 WTSI
MGP		 1.63×10-06
Eif2b5
Eif2b5tm1a(EUCOMM)Wtsi 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 1.93×10-06
Epc1
Epc1tm1e(EUCOMM)Wtsi 		HET   Early adult abnormal bone mineralization BMC/Body weight
DEXA		 WTSI
EuroPhenome		 2.41×10-06
Dhx40
Dhx40tm1(NCOM)Cmhd 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 CMHD
EuroPhenome		 3.60×10-06
Cyb561
Cyb561tm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 4.30×10-06
Ablim1
Ablim1tm1H 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 6.40×10-06
Mta1
Mta1tm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 WTSI
EuroPhenome		 8.38×10-06
Mpi
Mpitm1a(EUCOMM)Wtsi 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 1.57×10-05
Angel1
Angel1tm1(NCOM)Cmhd 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 CMHD
EuroPhenome		 1.87×10-05
Tnfaip1
Tnfaip1tm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 3.56×10-05
Entpd1
Entpd1tm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 4.23×10-05
Trpc3
Trpc3Mwk 		HET   Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 4.64×10-05
Pbx3
Pbx3tm1a(EUCOMM)Wtsi 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 4.78×10-05
Cgas
Cgastm1a(EUCOMM)Hmgu 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 5.67×10-05
Rhbdf2
Rhbdf2tm1.1Mfm 		HOM Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 5.78×10-05
Fbxo11
Fbxo11Jf 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 MRC Harwell
EuroPhenome		 8.65×10-05
Xbp1
Xbp1tm1a(EUCOMM)Wtsi 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 HMGU
EuroPhenome		 9.47×10-05
Fkbp10
Fkbp10tm2a(EUCOMM)Wtsi 		HET Early adult abnormal bone mineralization BMC/Body weight
DEXA		 ICS
EuroPhenome		 9.86×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Body Composition (DEXA lean/fat)
DEXA
Three-point Bend
Vertebra Compression

 Phenotype associations stats

0.48% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal skeleton physiology (34/7086)

0.24% females (17/7030) 0.27% males (19/7033)

Select a parameter    



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