Phenotype: abnormal clavicle morphology

Definition any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula

Synonyms
  • clavicle dysplasia
  • clavicle dysplasia
  • abnormal collar bone morphology
  • abnormal collar bone morphology
Related
Synonyms
  • absent clavicle
  • absent clavicle
  • clavicle hypoplasia
  • clavicle hypoplasia
  • Midclavicular hypoplasia
  • Long clavicles
  • Short clavicles
  • Aplastic clavicles
  • Midclavicular hypoplasia
  • Broad clavicles
  • Thin clavicles
  • Undulate clavicles
  • small clavicle
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MP browserMP:0005298

Phenotype associations stats

0.17% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal clavicle morphology (6/3587)

0.14% females (5/3548) 0.11% males (4/3563)

Gene variants with abnormal clavicle morphology

Total number of significant genotype-phenotype associations: 9

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal clavicle morphology X-ray | Clavicle WTSI | IMPC 3.7E-19
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal clavicle morphology X-ray | Clavicle MRC Harwell | IMPC 5.62E-14
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal clavicle morphology X-ray | Clavicle TCP | IMPC 9.26E-13
Pnpt1
Pnpt1tm1a(KOMP)Wtsi
HET Female postnatal abnormal clavicle morphology X-ray | Clavicle WTSI | EuroPhenome 4.35E-6
P2rx4
P2rx4tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal clavicle morphology X-ray | Clavicle MRC Harwell | IMPC 1.47E-5
Mapkapk2
Mapkapk2tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal clavicle morphology X-ray | Clavicle MRC Harwell | IMPC 4.34E-5

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