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Phenotype: irregularly shaped pupil

Definition
shape defects in the aperture of the iris through which light rays enter the eye, usually circular
Significant gene associations The way we measure Phenotype stats
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with irregularly shaped pupil

Total number of significant genotype-phenotype associations: 36

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Ppp2r5c
Ppp2r5cem1(IMPC)Mbp 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 UC Davis
IMPC		 6.17×10-15
Igsf9b
Igsf9bem1(IMPC)J 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 5.70×10-10
Sema3e
Sema3eem1(IMPC)H 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 MRC Harwell
IMPC		 8.68×10-10
Ncald
Ncaldtm1.1(KOMP)Vlcg 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 6.81×10-08
Adamtsl4
Adamtsl4em1(IMPC)J 		HOM Late adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 7.43×10-08
Col18a1
Col18a1tm1.1(KOMP)Vlcg 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 1.65×10-07
U2af1
U2af1em1(IMPC)J 		HET   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 3.49×10-07
Diaph3
Diaph3tm1b(KOMP)Mbp 		HET Late adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 6.91×10-07
Bmpr1b
Bmpr1bem1(IMPC)Mbp 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 UC Davis
IMPC		 1.00×10-06
Sox2
Sox2em1(IMPC)Mbp 		HET Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 UC Davis
IMPC		 1.00×10-06
Hsf4
Hsf4tm1b(KOMP)Wtsi 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 1.88×10-06
Hsd17b4
Hsd17b4em1(IMPC)Tcp 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 TCP
IMPC		 4.19×10-06
Med12l
Med12lem1(IMPC)J 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 4.79×10-06
Pitx2
Pitx2tm1b(EUCOMM)Wtsi 		HET Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 MRC Harwell
IMPC		 5.51×10-06
Podn
Podntm1b(KOMP)Wtsi 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 BCM
IMPC		 6.21×10-06
R3hcc1l
R3hcc1ltm1b(KOMP)Wtsi 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 6.95×10-06
Ppfia3
Ppfia3em1(IMPC)J 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 8.90×10-06
Slc20a2
Slc20a2tm1a(EUCOMM)Wtsi 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 WTSI
IMPC		 1.23×10-05
Ehmt1
Ehmt1tm1b(EUCOMM)Hmgu 		HET Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 MARC
IMPC		 1.62×10-05
Usp50
Usp50tm1(KOMP)Vlcg 		HET Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 MARC
IMPC		 1.70×10-05
Nxn
Nxntm1a(EUCOMM)Wtsi 		HET Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 BCM
IMPC		 2.14×10-05
Col4a3
Col4a3tm1b(EUCOMM)Wtsi 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 MRC Harwell
IMPC		 3.35×10-05
Pcsk6
Pcsk6em1(IMPC)J 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 3.37×10-05
Plekha5
Plekha5em1(IMPC)Tcp 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 TCP
IMPC		 3.40×10-05
Ppat
Ppatem1(IMPC)Tcp 		HET Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 TCP
IMPC		 3.80×10-05
Slc44a1
Slc44a1tm1b(EUCOMM)Hmgu 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 BCM
IMPC		 4.28×10-05
Eps15l1
Eps15l1em1(IMPC)J 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 5.27×10-05
Trpm7
Trpm7tm1b(KOMP)Wtsi 		HET   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 MRC Harwell
IMPC		 5.84×10-05
Wnt2b
Wnt2btm1b(EUCOMM)Wtsi 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 UC Davis
IMPC		 6.07×10-05
Pus1
Pus1em1(IMPC)J 		HOM Late adult irregularly shaped pupil Pupil Shape
Eye Morphology		 JAX
IMPC		 6.99×10-05
Pkig
Pkigtm1b(EUCOMM)Hmgu 		HOM Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 HMGU
IMPC		 7.08×10-05
Ubl7
Ubl7em1(IMPC)Tcp 		HOM   Early adult irregularly shaped pupil Pupil Shape
Eye Morphology		 TCP
IMPC		 7.30×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Eye Morphology
Slit Lamp

 Phenotype associations stats

0.47% of tested genes with null mutations on a B6N genetic background have a phenotype association to irregularly shaped pupil (32/6775)

0.24% females (16/6683) 0.16% males (11/6763)

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