Phenotype: abnormal iris morphology

Definition any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye

Synonyms
  • iris dysplasia
  • iris dysplasia
  • iris abnormalities
  • iris abnormalities
Related
Synonyms
  • Abnormal iris pigmentation
  • Abnormal iris pigmentation
  • Abnormal iris vasculature
  • Abnormal iris vasculature
  • Abnormal pupil morphology
  • Abnormal pupil shape
  • Abnormal pupillary function
  • Abnormal pupillary light reflex
  • Aniridia
  • Anterior synechiae of the anterior chamber
  • Aplasia/Hypoplasia of the iris
  • Asymmetry of iris pigmentation
  • Blue irides
  • Brushfield spots
  • Heterochromia iridis
  • Hypoplasia of the iris
  • Hypoplasia of the iris dilator muscle
  • Hypoplastic iris stroma
  • Iridodonesis
  • Iris atrophy
  • Iris coloboma
  • Iris cyst
  • Iris flocculi
  • Iris hypoperfusion
  • Iris hypopigmentation
  • Iris melanoma
  • Iris neovascularization
  • Iris nevus
  • Iris pigment dispersion
  • Iris transillumination defect
  • Iritis
  • Leukocoria
  • Lisch nodules
  • Microcoria
  • Miosis
  • Mydriasis
  • Ocular albinism
  • Oval pupil
  • Persistent pupillary membrane
  • Polycoria
  • Posterior synechiae of the anterior chamber
  • Rieger anomaly
  • Rubeosis iridis
  • Stellate iris
  • Tonic pupil
  • Uveal ectropion
  • abnormal iris pigment epithelium
  • abnormal iris pigmentation
  • abnormal iris stroma morphology
  • abnormal iris stromal pigmentation
  • abnormal iris transillumination
  • abnormal placement of pupils
  • abnormal pupil morphology
  • absent iris stroma
  • acoria
  • aniridia
  • anterior iris synechia
  • heterochromatic iridis
  • increased Lisch nodule incidence
  • iridoschisis
  • iris atrophy
  • iris coloboma
  • iris hyperplasia
  • iris hypoplasia
  • iris inflammation
  • iris stroma hypoplasia
  • iris synechia
  • irregularly shaped pupil
  • miotic pupils
  • mydriasis
  • ocular albinism
  • polycoria
  • posterior iris synechia
  • pupil opacity
  • small pupils
  • white pupil
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MP browserMP:0001322

Phenotype associations stats

1.03% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal iris morphology (42/4081)

0.63% females (25/3960) 0.77% males (31/4010)

Gene variants with abnormal iris morphology

Total number of significant genotype-phenotype associations: 66

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Tmem165
Tmem165tm1e(EUCOMM)Wtsi
HOM Female Male postnatal abnormal iris morphology Slit Lamp | Iris/Pupil WTSI | MGP 0.0
Grm6
Grm6tm1b(EUCOMM)Wtsi
HOM Female Male postnatal mydriasis Eye Morphology | Pupil Dilation MRC Harwell | IMPC 7.39E-22
Trpm1
Trpm1tm1b(KOMP)Wtsi
HOM Male postnatal mydriasis Eye Morphology | Pupil Dilation MRC Harwell | IMPC 7.39E-22
Hsf4
Hsf4tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal iris pigmentation Eye Morphology | Iris Pigmentation JAX | IMPC 7.72E-22
Rab10
Rab10em1(IMPC)J
HET Female Male postnatal iris synechia Eye Morphology | Synechia JAX | IMPC 3.61E-20
Col18a1
Col18a1tm1.1(KOMP)Vlcg
HOM Female Male postnatal abnormal iris pigmentation Eye Morphology | Iris Pigmentation JAX | IMPC 2.02E-17
Lyst
Lysttm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal iris morphology Eye Morphology | Iris/Pupil TCP | IMPC 3.62E-16
Dtnbp1
Dtnbp1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal iris pigmentation Eye Morphology | Iris Pigmentation TCP | IMPC 7.95E-16
Slc24a5
Slc24a5tm1b(KOMP)Mbp
HOM Female Male postnatal abnormal iris transillumination Eye Morphology | Iris transilumination JAX | IMPC 1.01E-15
Abi2
Abi2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal iris pigmentation Eye Morphology | Iris Pigmentation TCP | IMPC 1.11E-15
Lpcat1
Lpcat1tm1b(EUCOMM)Hmgu
HOM Female postnatal mydriasis Eye Morphology | Pupil Dilation MRC Harwell | IMPC 2.76E-15
Abi2
Abi2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal iris morphology Eye Morphology | Iris/Pupil TCP | IMPC 2.92E-14
Tssk4
Tssk4em1(IMPC)J
HOM Female Male postnatal iris synechia Eye Morphology | Synechia JAX | IMPC 2.65E-12
Ncald
Ncaldtm1.1(KOMP)Vlcg
HOM Female Male postnatal mydriasis Eye Morphology | Pupil Dilation JAX | IMPC 1.4E-10
Zfp597
Zfp597em1(IMPC)J
HOM Female postnatal iris synechia Eye Morphology | Synechia JAX | IMPC 1.46E-10
Eddm3b
Eddm3btm1b(KOMP)Wtsi
HOM Male postnatal abnormal iris pigmentation Eye Morphology | Iris Pigmentation MARC | IMPC 3.78E-10
Igsf9b
Igsf9bem1(IMPC)J
HOM Female postnatal irregularly shaped pupil Eye Morphology | Pupil Shape JAX | IMPC 1.35E-9
Slc20a2
Slc20a2tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal iris morphology Eye Morphology | Iris/Pupil WTSI | IMPC 3.83E-9
Col18a1
Col18a1tm1.1(KOMP)Vlcg
HOM Female postnatal irregularly shaped pupil Eye Morphology | Pupil Shape JAX | IMPC 5.62E-8
Sdc4
Sdc4tm2b(KOMP)Wtsi
HET Male postnatal mydriasis Eye Morphology | Pupil Dilation MRC Harwell | IMPC 1.31E-7
Itfg2
Itfg2em1(IMPC)J
HET Male postnatal iris synechia Eye Morphology | Synechia JAX | IMPC 1.38E-7
Cyb561
Cyb561tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal iris morphology Eye Morphology | Iris/Pupil MRC Harwell | IMPC 1.64E-7
Ccdc191
Ccdc191em1(IMPC)J
HOM Male postnatal mydriasis Eye Morphology | Pupil Dilation JAX | IMPC 2.41E-7
Jmjd1c
Jmjd1ctm1a(EUCOMM)Wtsi
HET Female postnatal mydriasis Eye Morphology | Pupil Dilation WTSI | IMPC 2.88E-7
Nr1d2
Nr1d2tm1Dgen
HOM Male postnatal abnormal iris morphology Slit Lamp | Iris/pupil ICS | EuroPhenome 3.35E-7
Kcnv1
Kcnv1em1(IMPC)J
HOM Male postnatal iris synechia Eye Morphology | Synechia JAX | IMPC 7.67E-7
Pitx2
Pitx2tm1b(EUCOMM)Wtsi
HET Female Male postnatal irregularly shaped pupil Eye Morphology | Pupil Shape MRC Harwell | IMPC 3.12E-6
Agap1
Agap1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal iris morphology Eye Morphology | Iris/Pupil WTSI | IMPC 4.71E-6
Col18a1
Col18a1tm1.1(KOMP)Vlcg
HOM Female postnatal abnormal placement of pupils Eye Morphology | Pupil Position JAX | IMPC 7.03E-6
Efna5
Efna5tm1b(EUCOMM)Wtsi
HOM Female postnatal irregularly shaped pupil Eye Morphology | Pupil Shape HMGU | IMPC 9.08E-6
Pkig
Pkigtm1b(EUCOMM)Hmgu
HOM Female postnatal irregularly shaped pupil Eye Morphology | Pupil Shape HMGU | IMPC 1.05E-5
Snip1
Snip1tm1a(EUCOMM)Wtsi
HET Female postnatal abnormal placement of pupils Slit Lamp | Iris/pupil position MRC Harwell | EuroPhenome 1.54E-5
Col4a3
Col4a3tm1b(EUCOMM)Wtsi
HOM Female postnatal irregularly shaped pupil Eye Morphology | Pupil Shape MRC Harwell | IMPC 1.72E-5
Kat14
Kat14tm1a(KOMP)Wtsi
HOM Male postnatal abnormal iris morphology Slit Lamp | Iris/Pupil WTSI | EuroPhenome 1.94E-5
Rpe65
Rpe65tm1a(EUCOMM)Hmgu
HOM Male postnatal abnormal pupil morphology Slit Lamp | Iris/pupil shape MRC Harwell | EuroPhenome 2.03E-5
Spns2
Spns2tm1a(KOMP)Wtsi
HOM Male postnatal abnormal iris morphology Slit Lamp | Iris/Pupil WTSI | EuroPhenome 2.04E-5
Cyb561
Cyb561tm1a(EUCOMM)Wtsi
HOM Female postnatal abnormal placement of pupils Slit Lamp | Iris/pupil position MRC Harwell | EuroPhenome 2.35E-5
Chic2
Chic2tm1b(EUCOMM)Wtsi
HET Male postnatal iris synechia Eye Morphology | Synechia MRC Harwell | IMPC 2.37E-5
Emc8
Emc8tm1b(EUCOMM)Hmgu
HET Male postnatal mydriasis Eye Morphology | Pupil Dilation MRC Harwell | IMPC 2.67E-5
Usp50
Usp50tm1(KOMP)Vlcg
HET Male postnatal irregularly shaped pupil Eye Morphology | Pupil Shape MARC | IMPC 2.72E-5
Kdm8
Kdm8tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal iris pigmentation Slit Lamp | Iris pigment ICS | EuroPhenome 2.79E-5
Hsf4
Hsf4tm1b(KOMP)Wtsi
HOM Female Male postnatal irregularly shaped pupil Eye Morphology | Pupil Shape JAX | IMPC 3.54E-5
Fgf7
Fgf7tm1e.1(EUCOMM)Hmgu
HOM Male postnatal mydriasis Eye Morphology | Pupil Dilation MRC Harwell | IMPC 3.55E-5
Nr1d2
Nr1d2tm1Dgen
HOM Male postnatal abnormal pupil morphology Slit Lamp | Iris/pupil shape ICS | EuroPhenome 3.65E-5
Sfrp1
Sfrp1tm1Aksh
HOM Male postnatal abnormal iris morphology Slit Lamp | Iris/pupil MRC Harwell | EuroPhenome 4.01E-5
Dsg1b
Dsg1btm1a(KOMP)Wtsi
HOM Female postnatal abnormal iris morphology Eye Morphology | Iris/Pupil WTSI | IMPC 4.3E-5
Ncald
Ncaldtm1.1(KOMP)Vlcg
HOM Female postnatal irregularly shaped pupil Eye Morphology | Pupil Shape JAX | IMPC 4.54E-5
Nptn
Nptntm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal iris morphology Eye Morphology | Iris/Pupil MRC Harwell | IMPC 7.34E-5
Col18a1
Col18a1tm1.1(KOMP)Vlcg
HOM Female postnatal abnormal iris morphology Eye Morphology | Iris/Pupil JAX | IMPC 8.45E-5
Elmod1
Elmod1tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal iris morphology Eye Morphology | Iris/Pupil MRC Harwell | IMPC 8.86E-5
Fgf7
Fgf7tm1e.1(EUCOMM)Hmgu
HOM Male postnatal abnormal placement of pupils Eye Morphology | Pupil Position MRC Harwell | IMPC 9.37E-5

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Images

  • Mtfmttm1e(KOMP)Wtsi
    eye, abnormal pupil morphology, impaired pupillary reflex, abnormal iris morphology, abnormal iris pigmentation, HET, Male, WTSI
  • Tmem165tm1e(EUCOMM)Wtsi
    eye, cataracts, synechia, abnormal iris morphology, impaired pupillary reflex, abnormal cornea morphology, HOM, Female, WTSI
  • Tmem165tm1e(EUCOMM)Wtsi
    eye, cataracts, abnormal iris morphology, HOM, Female, WTSI
  • Tmem165tm1e(EUCOMM)Wtsi
    eye, abnormal iris morphology, HOM, Female, WTSI
  • Ftotm1a(EUCOMM)Wtsi
    eye, corneal opacity, synechia, abnormal iris morphology, HOM, Female, WTSI

Associated Images

  • Eye Morphology: Images Slit Lamp
    28 Images