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ONTOLOGY REPORT - ANNOTATIONS


Term:vision/eye phenotype
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Accession:MP:0005391 term browser browse the term
Definition:the observable morphological and physiological characteristics of the mammalian spheroid organ and optic nerve that serve to detect light that are manifested through development and lifespan


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abnormal b wave amplitude term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:13782370
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
abnormal choroid vasculature morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:2307226
abnormal cone electrophysiology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:13782370
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
abnormal exorbital lacrimal gland morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P2ry2 purinergic receptor P2Y2 JBrowse link 1 166,031,228 166,045,423 RGD:2316657
abnormal eye morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:731242
abnormal eye physiology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601213
G Pax6Sey paired box gene 6, small eye mutation RGD:1601213
abnormal eyelid fusion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
abnormal horizontal cell morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:13782386
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782386
abnormal lens development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
abnormal Muller cell morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:13451131
G Crb1m1 crumbs 1, cell polarity complex component;mutant 1 RGD:13451131
abnormal retina morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601213
abnormal retinal apoptosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:1358731
abnormal retinal pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:13451131
G Crb1m1 crumbs 1, cell polarity complex component;mutant 1 RGD:13451131
abnormal retinal vasculature morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:1581593
absent b wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:13782191
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782191
cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1599824
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:629571
decreased a wave amplitude term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:13782370
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
decreased b wave amplitude term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:13703117
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
disorganized retinal outer nuclear layer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:13451131
G Crb1m1 crumbs 1, cell polarity complex component;mutant 1 RGD:13451131
microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552339
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:1579834
photoreceptor outer segment degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11535084
thin retinal outer nuclear layer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:2307226
thin retinal outer plexiform layer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:13782386
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782386

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5012
    vision/eye phenotype 76
      abnormal eye morphology + 69
      abnormal eye physiology + 20
paths to the root