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Phenotype: impaired pupillary reflex

Definition
the pupil fails to constrict fully when exposed to bright light
Synonyms
abnormal pupil dilation reaction to light,  Marcus-Gunn pupil
Significant gene associations The way we measure Phenotype stats
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with impaired pupillary reflex

Total number of significant genotype-phenotype associations: 69

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Grm6
Grm6tm1b(EUCOMM)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 1.28×10-22
Trpm1
Trpm1tm1b(KOMP)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 1.54×10-22
Rpe65
Rpe65tm1a(EUCOMM)Hmgu 		HOM Early adult impaired pupillary reflex Iris/pupil light response
Slit Lamp		 MRC Harwell
EuroPhenome		 4.34×10-18
Mfsd8
Mfsd8tm1b(EUCOMM)Hmgu 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 2.29×10-15
Lpcat1
Lpcat1tm1b(EUCOMM)Hmgu 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 1.21×10-14
Sema3e
Sema3eem1(IMPC)H 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 1.13×10-13
Enpp5
Enpp5tm1b(KOMP)Mbp 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 5.44×10-13
Vopp1
Vopp1em1(IMPC)J 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.64×10-12
Ash1l
Ash1ltm2b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MARC
IMPC		 3.51×10-11
Slc6a6
Slc6a6em1(IMPC)Mbp 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 UC Davis
IMPC		 4.12×10-11
Elavl1
Elavl1tm1b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 2.17×10-10
Elmod1
Elmod1tm1a(EUCOMM)Hmgu 		HOM Early adult impaired pupillary reflex Iris/pupil light response
Slit Lamp		 MRC Harwell
EuroPhenome		 2.25×10-10
Fgf10
Fgf10tm1b(EUCOMM)Wtsi 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 3.95×10-10
Zbtb43
Zbtb43tm1b(KOMP)Mbp 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 4.88×10-10
Ptcd3
Ptcd3tm1.1(KOMP)Vlcg 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 4.45×10-09
Ap1s2
Ap1s2em1(IMPC)Mbp 		HEM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 UC Davis
IMPC		 6.74×10-09
Tyw1
Tyw1tm1b(KOMP)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.33×10-08
Efna4
Efna4tm1.1(KOMP)Vlcg 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 3.09×10-08
Gm572
Gm572tm1b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 3.09×10-08
Ints10
Ints10tm1b(KOMP)Wtsi 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 4.52×10-08
Arap3
Arap3em1(IMPC)J 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 6.15×10-08
Dnaaf4
Dnaaf4tm1b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 6.15×10-08
Kif5a
Kif5atm1b(EUCOMM)Wtsi 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 6.15×10-08
Orc6
Orc6em1(IMPC)J 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 6.15×10-08
Hsbp1l1
Hsbp1l1em1(IMPC)J 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.09×10-07
Diaph3
Diaph3tm1b(KOMP)Mbp 		HET Late adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.81×10-07
Hpse2
Hpse2em1(IMPC)J 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.94×10-07
Pex6
Pex6em1(IMPC)Tcp 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 2.02×10-07
Ssbp2
Ssbp2tm1b(KOMP)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 UC Davis
IMPC		 4.56×10-07
Fgf7
Fgf7tm1e.1(EUCOMM)Hmgu 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 6.54×10-07
Smoc1
Smoc1tm1b(EUCOMM)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 1.15×10-06
Msn
Msntm1b(EUCOMM)Hmgu 		HEM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.92×10-06
Ntaq1
Ntaq1tm1.1(KOMP)Vlcg 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.92×10-06
Tmem222
Tmem222tm1b(KOMP)Mbp 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.92×10-06
Mtmr3
Mtmr3tm1b(EUCOMM)Hmgu 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 3.83×10-06
Plxna4
Plxna4em1(IMPC)Mbp 		HOM   Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 UC Davis
IMPC		 5.77×10-06
Nsun5
Nsun5tm2b(EUCOMM)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 6.67×10-06
Asxl1
Asxl1tm1a(EUCOMM)Wtsi 		HET Early adult impaired pupillary reflex Iris/Pupil light response
Slit Lamp		 WTSI
MGP		 6.89×10-06
Myo10
Myo10tm2(KOMP)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 WTSI
IMPC		 6.91×10-06
Rab18
Rab18Gt(EUCE0233a03)Hmgu 		HET Early adult impaired pupillary reflex Iris/pupil light response
Slit Lamp		 MRC Harwell
EuroPhenome		 7.94×10-06
Ttyh3
Ttyh3em1(IMPC)Tcp 		HOM   Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 1.06×10-05
Adam32
Adam32tm1b(KOMP)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.06×10-05
Eef1akmt2
Eef1akmt2tm1b(EUCOMM)Wtsi 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.06×10-05
Gspt2
Gspt2tm1.1(KOMP)Vlcg 		HEM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.06×10-05
Mrpl22
Mrpl22tm1b(KOMP)Mbp 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.06×10-05
Top3a
Top3atm1b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.06×10-05
Ncald
Ncaldtm1.1(KOMP)Vlcg 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.16×10-05
Plekha5
Plekha5em1(IMPC)Tcp 		HOM   Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 1.50×10-05
Ric8a
Ric8atm1b(KOMP)Wtsi 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.59×10-05
Kdm8
Kdm8tm1b(EUCOMM)Wtsi 		HET   Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 1.83×10-05
Cog7
Cog7tm1b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.88×10-05
Stim2
Stim2tm1.1(KOMP)Vlcg 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 1.88×10-05
Snrnp200
Snrnp200tm1b(KOMP)Mbp 		HET   Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 2.16×10-05
Pus1
Pus1em1(IMPC)J 		HOM Late adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 2.42×10-05
Ehmt1
Ehmt1tm1b(EUCOMM)Hmgu 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MARC
IMPC		 2.46×10-05
Glyr1
Glyr1em1(IMPC)Tcp 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 2.92×10-05
Svep1
Svep1tm1b(EUCOMM)Hmgu 		HET Late adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 JAX
IMPC		 3.27×10-05
Htr4
Htr4em2(IMPC)Marc 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MARC
IMPC		 4.10×10-05
Usp31
Usp31em1(IMPC)H 		HOM Late adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 MRC Harwell
IMPC		 4.42×10-05
Ppat
Ppatem1(IMPC)Tcp 		HET Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 4.97×10-05
Lbr
Lbrem1(IMPC)Tcp 		HOM   Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 6.69×10-05
Smchd1
Smchd1em1(IMPC)Tcp 		HOM Early adult impaired pupillary reflex Pupil Light Response
Eye Morphology		 TCP
IMPC		 8.75×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Eye Morphology
Pupillometry
Slit Lamp

 Phenotype associations stats

0.95% of tested genes with null mutations on a B6N genetic background have a phenotype association to impaired pupillary reflex (62/6505)

0.31% females (20/6429) 0.66% males (43/6504)

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