Phenotype: impaired pupillary reflex

Definition the pupil fails to constrict fully when exposed to bright light

Synonyms
  • abnormal pupil dilation reaction to light
  • abnormal pupil dilation reaction to light
  • Marcus-Gunn pupil
  • Marcus-Gunn pupil

MP browserMP:0006243

Login to register interest

Phenotype associations stats

0.89% of tested genes with null mutations on a B6N genetic background have a phenotype association to impaired pupillary reflex (26/2922)

0.39% females (11/2827) 0.65% males (19/2904)

Gene variants with impaired pupillary reflex

Total number of significant genotype-phenotype associations: 32

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Grm6
Grm6tm1b(EUCOMM)Wtsi
HOM Female Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 2.97E-21
Rpe65
Rpe65tm1a(EUCOMM)Hmgu
HOM Female Male postnatal impaired pupillary reflex Slit Lamp | Iris/pupil light response MRC Harwell | EuroPhenome 4.34E-18
Mfsd8
Mfsd8tm1b(EUCOMM)Hmgu
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 6.4E-15
Vopp1
Vopp1em1J
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.04E-13
Ash1l
Ash1ltm2b(EUCOMM)Hmgu
HET Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MARC | IMPC 3.51E-11
Elmod1
Elmod1tm1a(EUCOMM)Hmgu
HOM Female Male postnatal impaired pupillary reflex Slit Lamp | Iris/pupil light response MRC Harwell | EuroPhenome 2.25E-10
Fgf10
Fgf10tm1b(EUCOMM)Wtsi
HET Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 4.01E-10
Tyw1
Tyw1tm1b(KOMP)Wtsi
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 4.36E-10
Efna4
Efna4tm1.1(KOMP)Vlcg
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.15E-9
Arap3
Arap3em1J
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 2.55E-9
Kif5a
Kif5atm1b(EUCOMM)Wtsi
HET Female Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 2.55E-9
Adam32
Adam32tm1b(KOMP)Wtsi
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 5.06E-7
Gspt2
Gspt2tm1.1(KOMP)Vlcg
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 5.06E-7
Mrpl22
Mrpl22tm1b(KOMP)Mbp
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 5.06E-7
Ric8a
Ric8atm1b(KOMP)Wtsi
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 5.06E-7
Fgf7
Fgf7tm1e.1(EUCOMM)Hmgu
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 1.19E-6
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 3.9E-6
Asxl1
Asxl1tm1a(EUCOMM)Wtsi
HET Female postnatal impaired pupillary reflex Slit Lamp | Iris/Pupil light response WTSI | MGP 6.89E-6
Rab18
Rab18Gt(EUCE0233a03)Hmgu
HOM Male postnatal impaired pupillary reflex Slit Lamp | Iris/pupil light response MRC Harwell | EuroPhenome 7.94E-6
Rab18
Rab18Gt(EUCE0233a03)Hmgu
HET Male postnatal impaired pupillary reflex Slit Lamp | Iris/pupil light response MRC Harwell | EuroPhenome 7.94E-6
Myo10
Myo10tm2(KOMP)Wtsi
HOM Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response WTSI | IMPC 8.4E-6
Ehmt1
Ehmt1tm1b(EUCOMM)Hmgu
HET Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MARC | IMPC 2.46E-5
Htr4
Htr4em2Marc
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MARC | IMPC 4.1E-5
Ints10
Ints10tm1b(KOMP)Wtsi
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 6.39E-5
Ints10
Ints10tm1b(KOMP)Wtsi
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 6.39E-5
Ncald
Ncaldtm1.1(KOMP)Vlcg
HOM Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 7.16E-5
Csnk1g2
Csnk1g2tm1b(EUCOMM)Wtsi
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response HMGU | IMPC 7.32E-5
Rhbdf1
Rhbdf1tm1.1(KOMP)Vlcg
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 9.07E-5

Download data as: TSV XLS

Images

  • Prmt7tm1a(EUCOMM)Wtsi
    EYE, abnormal placement of pupils, mydriasis, impaired pupillary reflex, corneal opacity, cornea/lens fusion, abnormal pupil morphology, HET, Female, WTSI
  • Mcph1tm1a(EUCOMM)Wtsi
    EYE, impaired pupillary reflex, corneal opacity, cornea/lens fusion, abnormal iris morphology, HOM, Female, WTSI
  • Sdhctm1a(EUCOMM)Wtsi
    EYE, cornea/lens fusion, corneal opacity, impaired pupillary reflex, HET, Female, WTSI
  • Usp33tm1a(EUCOMM)Wtsi
    EYE, corneal vascularization, corneal opacity, impaired pupillary reflex, exophthalmos, eye hemorrhage, HOM, Female, WTSI
  • Usp33tm1a(EUCOMM)Wtsi
    EYE, corneal opacity, abnormal placement of pupils, impaired pupillary reflex, corneal vascularization, HOM, Female, WTSI

Associated Images

  • Eye Morphology: Images Slit Lamp
    1 Images