Phenotype: anophthalmia

Phenotype associations stats

0.95% of tested genes with null mutations on a B6N genetic background have a phenotype association to anophthalmia (33/3457)

0.79% females (27/3419) 0.46% males (16/3450)

Gene variants with anophthalmia

Total number of significant genotype-phenotype associations: 52

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
2700054A10Rik
2700054A10Rikem2Mbp
HOM Female postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve UC Davis | IMPC 0.0
Acat2
Acat2tm1b(KOMP)Wtsi
HOM Female embryonic day 12.5 anophthalmia Gross Morphology Embryo E12.5 | Anophthalmia BCM | IMPC 0.0
Acvr2a
Acvr2atm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Anapc15
Anapc15tm1.1(KOMP)Vlcg
HOM Female embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia JAX | IMPC 0.0
Axin2
Axin2tm1b(KOMP)Wtsi
HOM Female Male embryonic day 18.5 anophthalmia Gross Morphology Embryo E18.5 | Anophthalmia BCM | IMPC 0.0
Bmi1
Bmi1tm1.1(KOMP)Vlcg
HET Female embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Chd1
Chd1tm1b(KOMP)Wtsi
HET Male postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Fbxw9
Fbxw9tm1a(EUCOMM)Wtsi
HOM Male postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve BCM | IMPC 0.0
Flywch1
Flywch1tm1b(EUCOMM)Hmgu
HOM Female embryonic day 18.5 anophthalmia Gross Morphology Embryo E18.5 | Anophthalmia BCM | IMPC 0.0
Ggnbp2
Ggnbp2tm1b(KOMP)Wtsi
HOM Female embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Ggnbp2
Ggnbp2tm1b(KOMP)Wtsi
HET Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Gpa33
Gpa33tm2b(KOMP)Wtsi
HOM Female postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Inpp5e
Inpp5etm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Lrrc8a
Lrrc8atm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Mapkap1
Mapkap1tm1b(EUCOMM)Wtsi
HOM Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia BCM | IMPC 0.0
Mfsd2a
Mfsd2atm1b(KOMP)Wtsi
HET Female embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Mmachc
Mmachctm1.1(NCOM)Mfgc
HOM Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Mmp15
Mmp15tm1b(KOMP)Wtsi
HOM Female Male postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve BCM | IMPC 0.0
Mogs
Mogstm1(KOMP)Vlcg
HET Female Male postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve BCM | IMPC 0.0
Mtf1
Mtf1tm1b(KOMP)Wtsi
HOM Male embryonic day 12.5 anophthalmia Gross Morphology Embryo E12.5 | Anophthalmia JAX | IMPC 0.0
Nck1
Nck1tm1b(EUCOMM)Wtsi
HOM Female postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve UC Davis | IMPC 0.0
Nxn
Nxntm1a(EUCOMM)Wtsi
HET Female postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve BCM | IMPC 0.0
Pgbd1
Pgbd1em2Tcp
HOM Female postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Prkab1
Prkab1tm1b(KOMP)Wtsi
HOM Female postnatal anophthalmia Gross Pathology and Tissue Collection | Eye with optic nerve ICS | IMPC 0.0
Psph
Psphtm1.1(KOMP)Vlcg
HOM embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia TCP | IMPC 0.0
Rab34
Rab34tm1b(EUCOMM)Hmgu
HOM Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia JAX | IMPC 0.0
Snx3
Snx3tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 12.5 anophthalmia Gross Morphology Embryo E12.5 | Anophthalmia JAX | IMPC 0.0
Snx3
Snx3tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia JAX | IMPC 0.0
Snx3
Snx3tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 18.5 anophthalmia Gross Morphology Embryo E18.5 | Anophthalmia JAX | IMPC 0.0
Trib1
Trib1tm1b(KOMP)Wtsi
HOM Female embryonic day 18.5 anophthalmia Gross Morphology Embryo E18.5 | Anophthalmia BCM | IMPC 0.0
Ube2c
Ube2ctm1.1(KOMP)Wtsi
HET Female embryonic day 12.5 anophthalmia Gross Morphology Embryo E12.5 | Anophthalmia JAX | IMPC 0.0
Usf3
Usf3tm2b(EUCOMM)Wtsi
HOM Female embryonic day 18.5 anophthalmia Gross Morphology Embryo E18.5 | Anophthalmia BCM | IMPC 0.0
Wdr59
Wdr59tm1b(EUCOMM)Wtsi
HOM Female embryonic day 15.5 anophthalmia Gross Morphology Embryo E14.5-E15.5 | Anophthalmia BCM | IMPC 0.0
Pitx3
Pitx3tm1.1(KOMP)Vlcg
HOM Female Male postnatal anophthalmia Eye Morphology | Eye JAX | IMPC 1.21E-18
Fancl
Fancltm1b(EUCOMM)Hmgu
HOM Female postnatal anophthalmia Eye Morphology | Eye MARC | IMPC 2.06E-5
Slx4
Slx4tm1a(EUCOMM)Wtsi
HOM Male postnatal anophthalmia Dysmorphology | Eyes WTSI | EuroPhenome 9.05E-5

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