Phenotype: abnormal joint morphology

Definition any structural anomaly of the moveable articulation point of two or more bones

Synonyms joint dysplasia
Related
Synonyms
  • Abnormality of phalangeal joints of the hand
  • Abnormality of phalangeal joints of the hand
  • Abnormality of the small joints of the hand
  • Abnormality of the small joints of the hand
  • Broad cranial sutures
  • Camptodactyly of feet
  • Camptodactyly of toe
  • Central cleft palate
  • Costochondral thickening
  • Enlarged costochondral junctions
  • Enlargement of the costochondral junction
  • Fusion of midcervical facet joints
  • Hypermobility of interphalangeal joints
  • Increased mobility of hinge joints
  • Large cranial suture
  • Median cleft palate
  • Midline cleft palate
  • Persistent open cranial sutures
  • Prominent costochondral junction
  • Stiff hinge joints
  • Stiff interphalangeal joints
  • Wide costochondral junctions
  • Wide cranial sutures
  • Wide pubic symphysis
  • Wide symphysis of pubis
  • Widened costochondral junction
  • Widened cranial sutures
  • Wormian bones
  • abnormal acromioclavicular joint morphology
  • abnormal coronal suture morphology
  • abnormal costovertebral articulation
  • abnormal costovertebral joint morphology
  • abnormal cranial suture morphology
  • abnormal cranial sutures
  • abnormal elbow joint morphology
  • abnormal frontal suture morphology
  • abnormal frontonasal suture morphology
  • abnormal frontoparietal suture morphology
  • abnormal incisive suture morphology
  • abnormal incudomallear articulation
  • abnormal incudomallear joint morphology
  • abnormal incudomalleolar articulation
  • abnormal incudomalleolar joint morphology
  • abnormal incudostapedial articulation
  • abnormal incudostapedial joint morphology
  • abnormal interparietal suture morphology
  • abnormal interphalangeal articulation morphology
  • abnormal interphalangeal joint
  • abnormal intrafrontal suture morphology
  • abnormal joint capsule morphology
  • abnormal lambdoidal suture morphology
  • abnormal longitudinal suture morphology
  • abnormal mandibular joint morphology
  • abnormal maxillary-premaxillary suture morphology
  • abnormal mediofrontal suture morphology
  • abnormal metopic suture morphology
  • abnormal occipital suture morphology
  • abnormal occipitoparietal suture morphology
  • abnormal parietal suture morphology
  • abnormal premaxillary suture morphology
  • abnormal pubic symphysis morphology
  • abnormal rib articulation
  • abnormal rib attachment
  • abnormal rib joint
  • abnormal rib-sternum attachment
  • abnormal rib-vertebral column attachment
  • abnormal sagittal suture morphology
  • abnormal squamo-parietal suture morphology
  • abnormal sternocostal joint morphology
  • abnormal symphysis pubica
  • abnormal symphysis pubis
  • abnormal synovial space morphology
  • abnormal tempero-mandibular joint morphology
  • abnormal temporomandibular articulation morphology
  • abnormal temporomandibular joint morphology
  • absent interphalangeal articulations
  • absent interphalangeal joint
  • absent joint capsule
  • absent temporomandibular articulation
  • absent temporomandibular joint
  • asymmetric rib articulation
  • asymmetric rib attachment
  • asymmetric rib joints
  • broad cranial sutures
  • calcified joint
  • extra bones within cranial sutures
  • fused synovial joints
  • fusion of synovial joints
  • hemarthrosis
  • intra sutural bones
  • intrasutural bones
  • islands of bone within cranial sutures
  • joint calcification
  • joint capsule dysplasia
  • large cranial sutures
  • missing temporomandibular joint
  • open cranial sutures
  • persistent open cranial sutures
  • synovial hyperemia
  • synovial joint fusion
  • temporomandibular joint agenesis
  • wide cranial sutures
  • wide spaced cranial sutures
  • widened cranial sutures
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MP browserMP:0002932

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Phenotype associations stats

1.33% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal joint morphology (50/3757)

0.91% females (34/3739) 1.12% males (42/3751)

Gene variants with abnormal joint morphology

Total number of significant genotype-phenotype associations: 85

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Xbp1
Xbp1tm1a(EUCOMM)Wtsi
HET Female Male postnatal vertebral fusion X-Ray | Fusion of vertebrae ICS | EuroPhenome 3.68E-21
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 1.29E-16
Tram2
Tram2tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 1.29E-16
Cenpj
Cenpjtm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | EuroPhenome 1.64E-14
Slc25a21
Slc25a21tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | EuroPhenome 1.64E-14
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 1.4E-13
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 1.4E-13
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints TCP | IMPC 2.35E-12
Ttc28
Ttc28tm1b(EUCOMM)Hmgu
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae TCP | IMPC 6.17E-12
Phex
Phexnot yet available
HOM Male postnatal abnormal joint morphology X-Ray | Joints HMGU | EuroPhenome 5.74E-11
Cbx5
Cbx5tm1a(EUCOMM)Wtsi
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 3.16E-9
Lhcgr
Lhcgrtm1(KOMP)Vlcg
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Mir141
Mir141tm1(mirKO)Wtsi
HET Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Mir320
Mir320tm1(mirKO)Wtsi
HET Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Tmem63a
Tmem63atm1(KOMP)Vlcg
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Tmem63a
Tmem63atm1(KOMP)Vlcg
HET Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Cbx5
Cbx5tm1a(EUCOMM)Wtsi
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 4.21E-8
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 1.44E-7
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 1.44E-7
Gna11
Gna11tm1b(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 1.48E-6
Il12a
Il12atm1b(EUCOMM)Hmgu
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 1.72E-6
Arpc1b
Arpc1btm1a(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 1.72E-6
Pdss2
Pdss2tm1b(EUCOMM)Hmgu
HET Male postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 3.66E-6
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 4.27E-6
Rhobtb3
Rhobtb3tm1a(KOMP)Wtsi
HOM Male postnatal abnormal joint morphology X-ray | Joints WTSI | EuroPhenome 4.47E-6
Ahsa2
Ahsa2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Cdc26
Cdc26tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Chrna1
Chrna1tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Kctd15
Kctd15tm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Nae1
Nae1tm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Ncs1
Ncs1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Pigu
Pigutm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Plekhg3
Plekhg3tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Ptdss1
Ptdss1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Synpo2
Synpo2tm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Yipf5
Yipf5tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.63E-6
Aff3
Aff3tm1a(EUCOMM)Wtsi
HOM Female postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 5.1E-6
Rab19
Rab19tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 5.83E-6
Asxl1
Asxl1tm1a(EUCOMM)Wtsi
HET Female postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | EuroPhenome 6.98E-6
Ppp5c
Ppp5ctm1a(EUCOMM)Wtsi
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | EuroPhenome 6.98E-6
Cenpj
Cenpjtm1a(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | EuroPhenome 7.23E-6
Arpc1b
Arpc1btm1a(EUCOMM)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 9.48E-6
Abca4
Abca4tm1a(EUCOMM)Wtsi
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 1.52E-5
Ushbp1
Ushbp1tm1a(EUCOMM)Wtsi
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 1.52E-5
Gbx1
Gbx1
HOM Female postnatal vertebral fusion X-Ray | Fusion of vertebrae ICS | EuroPhenome 1.8E-5
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 2.12E-5
Mapkapk2
Mapkapk2tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 2.12E-5
C1rl
C1rltm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 2.48E-5
Dscc1
Dscc1tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | EuroPhenome 3.12E-5
Selenon
Selenontm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | EuroPhenome 3.12E-5
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-Ray | Fusion of vertebrae WTSI | EuroPhenome 3.65E-5
Lyplal1
Lyplal1tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 5.91E-5
Os9
Os9tm1a(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 5.91E-5
Ppp1r42
Ppp1r42tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 5.91E-5
Sel1l
Sel1ltm1e(KOMP)Wtsi
HET Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 5.91E-5
Setd5
Setd5tm1a(EUCOMM)Wtsi
HET Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 5.91E-5
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 5.91E-5

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Associated Images

  • X-ray: XRay Images Dorso Ventral
    164 Images
  • X-ray: XRay Images Lateral Orientation
    202 Images
  • X-ray: XRay Images Hind Leg and Hip
    8 Images
  • X-ray: XRay Images Forepaw
    8 Images
  • X-ray: XRay Images Skull Dorso Ventral Orientation
    3 Images
  • X-ray: XRay Images Skull Lateral Orientation
    2 Images