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Phenotype: abnormal optic disk morphology

Definition
any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
Synonyms
optic disc dysplasia,  optic disk dysplasia,  abnormal optic disc morphology
Significant gene associations The way we measure Phenotype stats
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal optic disk morphology

Total number of significant genotype-phenotype associations: 110

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Mettl23
Mettl23em1(IMPC)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 1.27×10-21
Bmpr1b
Bmpr1bem1(IMPC)Mbp 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 5.81×10-16
Pitx2
Pitx2tm1b(EUCOMM)Wtsi 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 9.30×10-16
Ppfibp2
Ppfibp2em1(IMPC)Tcp 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 2.13×10-15
Nbas
Nbastm1b(EUCOMM)Hmgu 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 3.95×10-15
Pepd
Pepdtm1b(KOMP)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 6.75×10-15
Sh3rf1
Sh3rf1em1(IMPC)J 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 1.79×10-14
Dnmbp
Dnmbpem1(IMPC)Mbp 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 3.07×10-14
Bmp4
Bmp4tm1b(EUCOMM)Hmgu 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 4.10×10-13
Zfp503
Zfp503em1(IMPC)Mbp 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 4.81×10-13
Gdf6
Gdf6em1(IMPC)Ccpcz 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 CCP-IMG
IMPC		 1.12×10-11
Col18a1
Col18a1tm1.1(KOMP)Vlcg 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 1.44×10-11
Olfml2b
Olfml2bem1(IMPC)J 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 5.68×10-11
Smoc1
Smoc1tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 6.51×10-10
Fgf10
Fgf10tm1b(EUCOMM)Wtsi 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 4.16×10-09
Zbtb16
Zbtb16em1(IMPC)Mbp 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 4.28×10-09
Bach2
Bach2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 1.84×10-08
Tfap2b
Tfap2btm1b(EUCOMM)Wtsi 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 3.74×10-08
Sox2
Sox2em1(IMPC)Mbp 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 4.04×10-08
Mettl5
Mettl5em1(IMPC)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 6.28×10-08
Stx5a
Stx5atm1b(EUCOMM)Hmgu 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 9.02×10-08
Ptp4a1
Ptp4a1em2(IMPC)Tcp 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 1.23×10-07
Ehmt1
Ehmt1tm1b(EUCOMM)Hmgu 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MARC
IMPC		 1.62×10-07
Stoml1
Stoml1em1(IMPC)Tcp 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 1.72×10-07
Trf
Trfem1(IMPC)J 		HET Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 6.95×10-07
Hmcn1
Hmcn1em1(IMPC)J 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 8.15×10-07
Agbl1
Agbl1em1(IMPC)J 		HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 9.07×10-07
Tex2
Tex2tm1.1(KOMP)Vlcg 		HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 9.07×10-07
Fhip2a
Fhip2aem1(IMPC)J 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 9.61×10-07
Rnf168
Rnf168tm2b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 CCP-IMG
IMPC		 9.83×10-07
Fbn2
Fbn2em1(IMPC)Rbrc 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 RBRC
IMPC		 1.01×10-06
Dbnl
Dbnltm1b(KOMP)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 ICS
IMPC		 2.08×10-06
Spin1
Spin1tm1.1(KOMP)Vlcg 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 2.47×10-06
Rabgap1
Rabgap1tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 2.62×10-06
Dpp3
Dpp3tm1b(EUCOMM)Hmgu 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 2.73×10-06
Cib3
Cib3em1(IMPC)H 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 2.79×10-06
Nub1
Nub1tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 CCP-IMG
IMPC		 2.99×10-06
Nxn
Nxntm1b(EUCOMM)Wtsi 		HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MARC
IMPC		 4.45×10-06
Btbd7
Btbd7em1(IMPC)Ccpcz 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 CCP-IMG
IMPC		 4.65×10-06
Trim39
Trim39tm1b(EUCOMM)Hmgu 		HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 7.85×10-06
1700001O22Rik
1700001O22Rikem1(IMPC)J 		HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 8.63×10-06
Plekhm1
Plekhm1tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 9.69×10-06
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 1.21×10-05
Rxfp2
Rxfp2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 1.48×10-05
Ahsa1
Ahsa1em1(IMPC)J 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 1.56×10-05
Cdkn1b
Cdkn1bem2(IMPC)H 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 1.64×10-05
Mapkapk2
Mapkapk2tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 1.64×10-05
Pard3
Pard3tm1b(KOMP)Wtsi 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 1.64×10-05
Nos1ap
Nos1aptm1b(KOMP)Wtsi 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 1.77×10-05
Obp2a
Obp2atm1b(EUCOMM)Wtsi 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 ICS
IMPC		 1.83×10-05
Pex6
Pex6em1(IMPC)Tcp 		HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 1.94×10-05
Atp8b1
Atp8b1em1(IMPC)Tcp 		HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 2.07×10-05
Ccdc34
Ccdc34em1(IMPC)J 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 2.09×10-05
Zbtb5
Zbtb5tm2b(EUCOMM)Hmgu 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 2.22×10-05
Spidr
Spidrtm1b(EUCOMM)Hmgu 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 2.28×10-05
Aif1
Aif1tm1.1(KOMP)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 2.34×10-05
Cant1
Cant1tm1b(EUCOMM)Hmgu 		HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 2.55×10-05
Ppat
Ppatem1(IMPC)Tcp 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 2.55×10-05
Plekha5
Plekha5em1(IMPC)Tcp 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 2.63×10-05
Arl2bp
Arl2bpem1(IMPC)J 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 2.67×10-05
Cidec
Cidectm1b(EUCOMM)Wtsi 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 2.81×10-05
Egr1
Egr1tm1b(NCOM)Mfgc 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 3.01×10-05
Zfp930
Zfp930tm1b(KOMP)Wtsi 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 3.07×10-05
Hipk4
Hipk4tm1b(KOMP)Mbp 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 3.14×10-05
Ppfia2
Ppfia2tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 3.43×10-05
Nmt2
Nmt2tm2b(EUCOMM)Hmgu 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 3.80×10-05
Plxna4
Plxna4em1(IMPC)Mbp 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 3.86×10-05
Rcc2
Rcc2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 4.81×10-05
Shmt2
Shmt2em1(IMPC)Bay 		HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 5.07×10-05
Rab3gap2
Rab3gap2tm1b(KOMP)Wtsi 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 5.31×10-05
Tmem11
Tmem11em1(IMPC)Tcp 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 6.36×10-05
Zfp329
Zfp329em1(IMPC)J 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 6.87×10-05
Sptlc3
Sptlc3em1(IMPC)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 HMGU
IMPC		 6.92×10-05
Tshz2
Tshz2em1(IMPC)Bay 		HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 BCM
IMPC		 6.96×10-05
Pcsk6
Pcsk6em1(IMPC)J 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 6.99×10-05
Apmap
Apmapem1(IMPC)J 		HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 7.27×10-05
Ik
Ikem2(IMPC)Kmpc 		HET   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology		 KMPC
IMPC		 7.90×10-05
Prdm5
Prdm5em1(IMPC)Tcp 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 8.17×10-05
Sra1
Sra1tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 TCP
IMPC		 8.17×10-05
Zzef1
Zzef1tm2.1(KOMP)Vlcg 		HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 8.19×10-05
Tmem38b
Tmem38bem1(IMPC)Mbp 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 UC Davis
IMPC		 8.58×10-05
Dnm1l
Dnm1ltm1b(KOMP)Wtsi 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 ICS
IMPC		 8.84×10-05
Slc7a11
Slc7a11tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 ICS
IMPC		 8.84×10-05
Gulo
Guloem1(IMPC)Ccpcz 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 CCP-IMG
IMPC		 8.88×10-05
Gbx1
Gbx1tm1b(KOMP)Wtsi 		HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 8.96×10-05
Kdm8
Kdm8tm1b(EUCOMM)Wtsi 		HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 MRC Harwell
IMPC		 8.96×10-05
Ap1g1
Ap1g1tm1b(EUCOMM)Hmgu 		HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology		 JAX
IMPC		 9.30×10-05

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 The way we measure

Procedure
Eye Morphology
Indirect ophthalmoscopy
Ophthalmoscope

 Phenotype associations stats

1.19% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal optic disk morphology (87/7308)

0.51% females (37/7245) 0.60% males (44/7316)

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