Phenotype: abnormal vertebral arch morphology

Definition any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)

Synonyms
  • abnormal neural arch morphology
  • abnormal neural arch morphology
  • abnormal dorsal arch morphology
  • abnormal dorsal arch morphology
Related
Synonyms
  • Hypoplastic spinal processes
  • Hypoplastic spinal processes
  • absent vertebral spinous process
  • absent vertebral spinous process
  • Absent spinous processes of lower thoracic and lumbar vertebrae
  • Enlarged vertebral pedicles
  • abnormal vertebral spinous process morphology
  • diastematomyelia
  • absent vertebral arch
  • abnormal vertebral articular process morphology
  • Enlarged vertebral pedicles
  • Spina bifida occulta
  • Spina bifida occulta at L5
  • diastematomyelia
  • abnormal vertebral lamina morphology
  • absent vertebral pedicles
  • Hypoplastic vertebral pedicle
  • Absent spinous processes of lower thoracic and lumbar vertebrae
  • fusion of vertebral arches
  • abnormal vertebral pedicle morphology
  • Hypoplastic L5 vertebral pedicle
  • Abnormal vertebral pedicle morphology
  • absent vertebral spinous process
  • abnormal vertebral transverse process morphology
  • Hypoplastic vertebral pedicle
  • Spina bifida occulta at S1
  • absent vertebral pedicles
  • Spina bifida occulta at L5
  • Abnormality of the vertebral spinous processes
  • Spina bifida occulta at S1
  • spina bifida occulta
  • Hypoplastic spinal processes
  • absent vertebral transverse processes
  • Hypoplastic L5 vertebral pedicle
  • fusion of vertebral bodies
  • abnormal vertebral arch development
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Phenotype associations stats

0.42% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal vertebral arch morphology (17/4004)

0.33% females (13/3983) 0.30% males (12/3994)

Gene variants with abnormal vertebral arch morphology

Total number of significant genotype-phenotype associations: 27

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal vertebral arch morphology X-ray | Lumbar processes WTSI | IMPC 3.74E-19
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
Phex
Phexnot yet available
HOM Female Male postnatal abnormal vertebral arch morphology X-Ray | Processes on vertebrae HMGU | EuroPhenome 4.04E-8
Aff3
Aff3tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal vertebral arch morphology X-ray | Thoracic processes WTSI | IMPC 7.07E-8
Cbx5
Cbx5tm1a(EUCOMM)Wtsi
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 7.24E-8
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 2.48E-7
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 2.48E-7
Aff3
Aff3tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal vertebral arch morphology X-ray | Thoracic processes WTSI | IMPC 3.5E-7
Pld5
Pld5tm1b(KOMP)Wtsi
HOM Female postnatal abnormal vertebral arch morphology X-ray | Thoracic processes WTSI | IMPC 2.16E-6
Spopl
Spopltm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal vertebral arch morphology X-ray | Thoracic processes WTSI | IMPC 4.67E-6
Aff3
Aff3tm1a(EUCOMM)Wtsi
HOM Female postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 6.69E-6
Mysm1
Mysm1tm1a(KOMP)Wtsi
HET Female postnatal abnormal vertebral arch morphology X-Ray | Processes on vertebrae WTSI | EuroPhenome 1.42E-5
Arpc1b
Arpc1btm1a(EUCOMM)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 1.47E-5
Skida1
Skida1tm1(KOMP)Wtsi
HET Female postnatal abnormal vertebral arch morphology X-ray | Thoracic processes WTSI | IMPC 1.81E-5
Slc25a30
Slc25a30tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal vertebral arch morphology X-ray | Thoracic processes WTSI | IMPC 1.81E-5
Epc2
Epc2tm1e(EUCOMM)Wtsi
HET Female postnatal abnormal vertebral arch morphology X-Ray | Processes on vertebrae WTSI | EuroPhenome 4.47E-5

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Associated Images

  • X-ray: XRay Images Dorso Ventral
    153 Images
  • X-ray: XRay Images Lateral Orientation
    420 Images
  • X-ray: XRay Images Skull Lateral Orientation
    10 Images