Gene Summary

Name:
podocan
Synonyms:
SLRR5A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased cornea thickness Podntm1b(KOMP)Wtsi HOM   Early adult 4.55×10-06
irregularly shaped pupil Podntm1b(KOMP)Wtsi HOM Early adult 6.35×10-06
abnormal eye anterior chamber depth Podntm1b(KOMP)Wtsi HOM   Early adult 2.00×10-15
preweaning lethality, incomplete penetrance Podntm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 319)
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vas deferens 4.64% (18 of 388)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Wholemount

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Podn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Podn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Facial Spasm
Anisocoria OMIM:134300
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness OMIM:229200
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Coats Disease
Leukocoria OMIM:300216
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Choriocapillaris atrophy, Keratoconus, Cataract OMIM:613835
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Alexander Disease
Microcoria OMIM:203450
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Brittle Cornea Syndrome
Corneal scarring, Corneal erosion, Corneal dystrophy, Keratoglobus, Decreased corneal thickness ORPHA:90354
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Proteus-Like Syndrome
Limbal dermoid, Cataract, Abnormal pupil morphology, Heterochromia iridis ORPHA:2969
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Intestinal Botulism
Mydriasis ORPHA:178481
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Duane Retraction Syndrome
Hypoplastic iris stroma, Abnormal pupil morphology, Microcornea, Iris coloboma, Central heterochr... ORPHA:233
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Astigmatism OMIM:618727
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Iatrogenic Botulism
Mydriasis ORPHA:254509
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane OMIM:613150
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Botulism
Mydriasis ORPHA:1267
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Foodborne Botulism
Mydriasis ORPHA:228371
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Oculoauricular Syndrome
Microphakia, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, ... OMIM:612109
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Develop... OMIM:267750
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Trichinellosis
Anisocoria, Abnormal uvea morphology, Conjunctivitis, Conjunctival hyperemia ORPHA:863
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... ORPHA:2363
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Costello Syndrome
Keratoconus ORPHA:3071
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Buphthalmos, Cataract, Lentiglobus, Chorioretinal dys... ORPHA:534
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Retinoblastoma
Hypopyon, Uveitis, Heterochromia iridis, Leukocoria ORPHA:790
Retinoblastoma
Leukocoria OMIM:180200
Serotonin Syndrome
Mydriasis ORPHA:43116
Gapo Syndrome
Keratoconus ORPHA:2067
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Mydriasis OMIM:259720
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Superficial Siderosis
Anisocoria ORPHA:247245
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Pituitary Apoplexy
Mydriasis ORPHA:95613
Gapo Syndrome
Keratoconus OMIM:230740
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Arachnoid Cyst
Mydriasis ORPHA:2356
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Mowat-Wilson Syndrome
Ectopia pupillae, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma OMIM:235730
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Ectopia pupillae, Axenfeld anomaly, Microcornea, Astigmatism, Iris col... ORPHA:261552
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria, Cataract OMIM:613406
Cocaine Intoxication
Mydriasis ORPHA:90068
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Cataract ORPHA:93357
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Scorpion Envenomation
Mydriasis ORPHA:466677
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Keratoconus ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Podn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Podn.

No publications found that use IMPC mice or data for Podn.

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MGI Allele Allele Type Produced
Podntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Podntm36523(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Podntm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Podntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Podntm36523(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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