Phenotype: abnormal retinal outer nuclear layer morphology

Definition any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones

Synonyms
  • abnormal outer nuclear layer morphology
  • abnormal outer nuclear layer morphology
  • abnormal ONL morphology
  • abnormal ONL morphology
Related
Synonyms
  • abnormal retinal outer nuclear layer thickness
  • abnormal retinal outer nuclear layer thickness
  • disorganized retinal outer nuclear layer
  • disorganized retinal outer nuclear layer
  • retinal outer nuclear layer degeneration
  • thick retinal outer nuclear layer
  • thin retinal outer nuclear layer
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Phenotype associations stats

1.02% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal retinal outer nuclear layer morphology (3/293)

1.09% females (3/276) 1.09% males (3/276)

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Gene variants with abnormal retinal outer nuclear layer morphology

Total number of significant genotype-phenotype associations: 6

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Kansl1
Kansl1tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal retinal outer nuclear layer morphology Eye Morphology | Left outer nuclear layer ICS | IMPC 4.04E-11
Rspo1
Rspo1tm2b(KOMP)Wtsi
HOM Female Male postnatal abnormal retinal outer nuclear layer morphology Eye Morphology | Left outer nuclear layer ICS | IMPC 2.73E-7
Aak1
Aak1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal retinal outer nuclear layer morphology Eye Morphology | Left outer nuclear layer ICS | IMPC 9.94E-5

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