Phenotype: microphthalmia

Definition reduced average size of the eyes; generally refers to a congenital defect

Synonyms
  • microphthalamos
  • microphthalamos
  • small eyes
  • small eyes
  • decreased eye size
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Related
Synonyms
  • Narrow palpebral fissure
  • Narrow palpebral fissure
  • Palpebral fissure narrowing on adduction
  • Palpebral fissure narrowing on adduction
  • Palpebral fissure narrowing on adduction
  • Blepharophimosis
  • posterior microphthalmia
  • narrow eye opening
  • Bilateral microphthalmos
  • Unilateral narrow palpebral fissure
  • Unilateral narrow palpebral fissure
  • Short palpebral fissure
  • Unilateral microphthalmos
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MP browserMP:0001297

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Phenotype associations stats

1.41% of tested genes with null mutations on a B6N genetic background have a phenotype association to microphthalmia (41/2904)

1.19% females (34/2857) 0.63% males (18/2874)

Gene variants with microphthalmia

Total number of significant genotype-phenotype associations: 58

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Abhd11
Abhd11em1(IMPC)Mbp
HOM Female Male postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve UC Davis | IMPC 0.0
Acat2
Acat2tm1b(KOMP)Wtsi
HOM Female embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia BCM | IMPC 0.0
Acvr2a
Acvr2atm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Adsl
Adsltm1b(KOMP)Wtsi
HET Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve BCM | IMPC 0.0
Anapc15
Anapc15tm1.1(KOMP)Vlcg
HOM Female embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia JAX | IMPC 0.0
Arhgap33
Arhgap33tm1b(KOMP)Wtsi
HET Female Male embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Axin2
Axin2tm1b(KOMP)Wtsi
HOM Female Male embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Axin2
Axin2tm1b(KOMP)Wtsi
HET Female embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Bckdha
Bckdhaem1(IMPC)Tcp
HET Female embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Bmi1
Bmi1tm1.1(KOMP)Vlcg
HET Female Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Bmi1
Bmi1tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Casr
Casrtm1b(KOMP)Mbp
HET Female embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Cdh10
Cdh10tm2b(KOMP)Wtsi
HOM Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve UC Davis | IMPC 0.0
Cdk4
Cdk4tm1b(NCOM)Mfgc
HOM Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Cep135
Cep135em1(IMPC)J
HOM Male embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia JAX | IMPC 0.0
Cox6b1
Cox6b1em1(IMPC)Tcp
HOM Female embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia TCP | IMPC 0.0
Cyb5r3
Cyb5r3tm1b(KOMP)Wtsi
HET Female Male embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia JAX | IMPC 0.0
Dync1li1
Dync1li1em1(IMPC)Tcp
HOM Female Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Fam13b
Fam13btm1b(EUCOMM)Wtsi
HOM Female embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Fmc1
Fmc1tm1b(EUCOMM)Wtsi
HET Female embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Fmc1
Fmc1tm1b(EUCOMM)Wtsi
HOM Female Male embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Fzd4
Fzd4tm1.1(KOMP)Vlcg
HET Female embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia TCP | IMPC 0.0
Grm3
Grm3tm1b(KOMP)Wtsi
HOM Male postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve MRC Harwell | IMPC 0.0
Grtp1
Grtp1tm1b(EUCOMM)Hmgu
HOM Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Hoxb13
Hoxb13tm1b(KOMP)Wtsi
HOM Female embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia BCM | IMPC 0.0
Iars2
Iars2em1(IMPC)Tcp
HET Female embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Inpp5e
Inpp5etm1.1(KOMP)Vlcg
HOM Female Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Ints10
Ints10tm1b(KOMP)Wtsi
HET Female embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia JAX | IMPC 0.0
Map3k12
Map3k12tm1b(EUCOMM)Hmgu
HOM Female embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Mtf1
Mtf1tm1b(KOMP)Wtsi
HOM Male embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia JAX | IMPC 0.0
Mthfd2
Mthfd2tm1b(EUCOMM)Wtsi
HOM Female Male embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia BCM | IMPC 0.0
Mvk
Mvkem1(IMPC)Tcp
HET Male postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Nfil3
Nfil3tm1.1(KOMP)Vlcg
HOM Male postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve UC Davis | IMPC 0.0
Prdm4
Prdm4tm1b(EUCOMM)Hmgu
HOM Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve MRC Harwell | IMPC 0.0
Psph
Psphtm1.1(KOMP)Vlcg
HOM embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Ptp4a1
Ptp4a1em2(IMPC)Tcp
HOM Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Snx3
Snx3tm1.1(KOMP)Vlcg
HOM Female Male embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia JAX | IMPC 0.0
Spred3
Spred3em1(IMPC)Tcp
HET Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0
Synrg
Synrgtm1b(EUCOMM)Wtsi
HET Female Male embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia BCM | IMPC 0.0
Tdo2
Tdo2tm1b(KOMP)Mbp
HOM Female embryonic day 15.5 microphthalmia Gross Morphology Embryo E14.5-E15.5 | Microphthalmia TCP | IMPC 0.0
Tead1
Tead1tm1b(KOMP)Wtsi
HOM Female embryonic day 12.5 microphthalmia Gross Morphology Embryo E12.5 | Microphthalmia BCM | IMPC 0.0
Tmem209
Tmem209em1(IMPC)Tcp
HOM Female embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia TCP | IMPC 0.0
Trib1
Trib1tm1b(KOMP)Wtsi
HOM Female embryonic day 18.5 microphthalmia Gross Morphology Embryo E18.5 | Microphthalmia BCM | IMPC 0.0
Wdr62
Wdr62em1(IMPC)Tcp
HOM Female postnatal microphthalmia Gross Pathology and Tissue Collection | Eye with optic nerve TCP | IMPC 0.0

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