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

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Phenotype associations stats

0.74% of tested genes with null mutations on a B6N genetic background have a phenotype association to impaired pupillary reflex (24/3229)

0.32% females (10/3089) 0.57% males (18/3152)

Gene variants with impaired pupillary reflex

Total number of significant genotype-phenotype associations: 28

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 1.58E-21
Rpe65
Rpe65tm1a(EUCOMM)Hmgu
HOM Female Male postnatal impaired pupillary reflex Slit Lamp | Iris/pupil light response MRC Harwell | MGP 4.34E-18
Mfsd8
Mfsd8tm1b(EUCOMM)Hmgu
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 2.39E-15
Vopp1
Vopp1em1(IMPC)J
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.47E-14
Ash1l
Ash1ltm2b(EUCOMM)Hmgu
HET Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MARC | IMPC 7.37E-12
Tyw1
Tyw1tm1b(KOMP)Wtsi
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.41E-10
Elmod1
Elmod1tm1a(EUCOMM)Hmgu
HOM Female Male postnatal impaired pupillary reflex Slit Lamp | Iris/pupil light response MRC Harwell | MGP 2.25E-10
Efna4
Efna4tm1.1(KOMP)Vlcg
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 3.3E-10
Arap3
Arap3em1(IMPC)J
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 6.59E-10
Kif5a
Kif5atm1b(EUCOMM)Wtsi
HET Female Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 6.59E-10
Adam32
Adam32tm1b(KOMP)Wtsi
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.67E-7
Gspt2
Gspt2tm1.1(KOMP)Vlcg
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.67E-7
Mrpl22
Mrpl22tm1b(KOMP)Mbp
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.67E-7
Ric8a
Ric8atm1b(KOMP)Wtsi
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.67E-7
Fgf7
Fgf7tm1e.1(EUCOMM)Hmgu
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MRC Harwell | IMPC 1.74E-7
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
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 8.1E-6
Ncald
Ncaldtm1.1(KOMP)Vlcg
HOM Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 1.97E-5
Stim2
Stim2tm1.1(KOMP)Vlcg
HET Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 2.7E-5
Ints10
Ints10tm1b(KOMP)Wtsi
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 3.74E-5
Rhbdf1
Rhbdf1tm1.1(KOMP)Vlcg
HET Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 5.23E-5
Myom1
Myom1em1(IMPC)J
HOM Male postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response JAX | IMPC 6.96E-5
Aars2
Aars2tm1(KOMP)Wtsi
HET Female postnatal impaired pupillary reflex Eye Morphology | Pupil Light Response MARC | IMPC 7.74E-5

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Images

  • Spns2tm1a(KOMP)Wtsi
    EYE, corneal ulcer, impaired pupillary reflex, corneal opacity, corneal vascularization, HOM, Male, WTSI
  • Spns2tm1a(KOMP)Wtsi
    EYE, abnormal pupil morphology, corneal ulcer, impaired pupillary reflex, corneal vascularization, corneal opacity, HOM, Male, WTSI
  • Hmx3hx
    EYE, mydriasis, impaired pupillary reflex, HOM, Female, WTSI
  • Hmx3hx
    EYE, mydriasis, abnormal pupil morphology, impaired pupillary reflex, HOM, Female, WTSI
  • Hmx3hx
    EYE, impaired pupillary reflex, mydriasis, abnormal pupil morphology, HOM, Female, WTSI

Associated Images

  • Eye Morphology: Images Slit Lamp
    1 Images