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Gene: Frmd6 MGI:2442579

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Gene Summary

Name:
FERM domain containing 6
Synonyms:
2610019M19Rik,  4930488L10Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
cataract Frmd6em1(IMPC)H HOM Early adult 3.04×10-13
increased heart weight Frmd6em1(IMPC)H HOM   Early adult 2.14×10-10
abnormal gait Frmd6em1(IMPC)H HOM Early adult 4.06×10-08
decreased locomotor activity Frmd6em1(IMPC)H HOM Early adult 4.32×10-05
narrow eye opening Frmd6em1(IMPC)H HOM Early adult 4.49×10-05
persistence of hyaloid vascular system Frmd6em1(IMPC)H HOM Early adult 1.21×10-08
increased aggression Frmd6em1(IMPC)H HET Early adult 6.96×10-06
abnormal vocalization Frmd6em1(IMPC)H HET Early adult 3.06×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Frmd6 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 Frmd6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia, Medial flaring of the eyebrow ORPHA:1168
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Cataract, Hepatomegaly, Epicanthus OMIM:614882
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Aniridia 3
Cataract OMIM:617142
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract, Hepatomegaly OMIM:607906
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Ptosis, Gait disturbance ORPHA:1875
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract, Ptosis OMIM:120433
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Abnormal heart morphology, Apla... ORPHA:1067
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Macular atrophy OMIM:618220
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Chorioretinal coloboma, Cataract ORPHA:2489
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract, Ataxia, Optic atrophy ORPHA:329314
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Loss of ambulation, Macular degeneration, Concentric hypertrophic cardiomyopathy, Optic... OMIM:204200
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Cataract, Ptosis, Progressive cerebellar ataxia, Truncal ataxia, Tortuosity of conjunc... ORPHA:284289
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Cataract, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Broad-based gait OMIM:224050
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Upslanted palpebral fissure, Cataract, Microcornea ORPHA:2528
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Mevalonic Aciduria
Downslanted palpebral fissures, Cataract, Splenomegaly, Ataxia ORPHA:29
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Cataract, Shuffling gait ORPHA:3433
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Gait disturbance, Cataract, Tip-toe gait OMIM:617404
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Iris coloboma OMIM:212550
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Cataract, Ptosis ORPHA:1373
Galactosemia Iv
Cataract OMIM:618881
Coats Disease
Cataract, Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris ORPHA:190
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Refsum Disease, Classic
Retinal degeneration, Cataract, Ataxia, Ptosis, Cardiomyopathy, Cardiomegaly OMIM:266500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation OMIM:614292
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Xeroderma Pigmentosum, Complementation Group G
Cataract, Ataxia OMIM:278780
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy, Ataxia OMIM:614879
Autosomal Dominant Keratitis
Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris st... ORPHA:2334
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Spastic Paraplegia 5A, Autosomal Recessive
Limb dysmetria, Cataract, Spastic gait, Optic atrophy OMIM:270800
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Stickler Syndrome Type 2
Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Spastic Paraplegia 26, Autosomal Recessive
Dysmetria, Spastic gait, Cataract, Ataxia, Tip-toe gait, Difficulty walking OMIM:609195
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration OMIM:611131
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hepatomegaly, Truncal ataxia, Waddling gait, Difficulty walking ORPHA:369840
Alg2-Cdg
Cataract, Hepatomegaly, Downslanted palpebral fissures, Epicanthus, Iris coloboma ORPHA:79326
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Infantile Spasms-Broad Thumbs Syndrome
Downslanted palpebral fissures, Cataract, Hypertrophic cardiomyopathy, Optic disc pallor ORPHA:3173
Laurence-Moon Syndrome
Epicanthus, Ataxia, Cataract, Iris coloboma ORPHA:2377
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Baralle-Macken Syndrome
Upslanted palpebral fissure, Cataract, Inability to walk OMIM:619255
Exudative Vitreoretinopathy 6
Cataract, Retinal detachment OMIM:616468
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia ORPHA:3156
Jaberi-Elahi Syndrome
Dysmetria, Cataract, Sparse eyebrow, Inability to walk, Gait ataxia, Sparse eyelashes, Optic atrophy OMIM:617988
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hepatomegaly, Ptosis, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Astigmatism, Cataract, Inability to walk, Abnormal heart morphology, Narrow palpebral fissure, Ho... OMIM:618571
Usher Syndrome Type 3
Cataract, Astigmatism, Ataxia, Iris hypopigmentation ORPHA:231183
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment OMIM:193230
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly,... OMIM:120200
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract OMIM:613731
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Frontofacionasal Dysplasia
Absent inner eyelashes, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Microcornea, Catarac... ORPHA:1791
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Peters anomaly, Coloboma, Ventricular septal defect, ... OMIM:618652
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae, Epicanthus OMIM:615877
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cataract, Optic disc pallor, Macular atrophy OMIM:614500
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Cataract, Retinal dysplasia, Gait disturbance, Optic atrophy ORPHA:272
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Hepatomegaly, Lethargy, Synophrys, Cardiomegaly OMIM:619064
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Spastic gait, Cataract, Corneal opacity, Hypertrophic cardiomyopathy... ORPHA:496790
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Inability to walk, Splenomegaly, Hepatomegaly, Ataxia OMIM:608885
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Cataract 47
Microcornea, Cataract OMIM:612018
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Ptosis ORPHA:1069
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Hepatomegaly, Broad-based gait OMIM:618805
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmat... OMIM:152950
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic nerve hypoplasia, Gait disturbance, Optic atrophy ORPHA:163937
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormal eyelash morphology, Sparse eyebrow, Cataract, Corneal opacity, Lacrimal punctal atresia,... ORPHA:2399
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Ataxia, Unsteady gait, Gait ataxia, Truncal ataxia, Cardiomyopathy, Gait disturbanc... OMIM:619259
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Cataract, Optic nerve hypoplasia, Abnormal aortic valve morpholog... OMIM:615280
Juvenile Sialidosis Type 2
Dysmetria, Hepatosplenomegaly, Loss of ability to walk, Cataract, Corneal opacity, Visceromegaly,... ORPHA:93399
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Cataract, Ptosis, Downslanted palpebral fissures, Epicanthus, Abnormal cardiac septu... OMIM:616449
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot ORPHA:1381
Vogt-Koyanagi-Harada Disease
Cataract, Abnormal eyelash morphology, Retinal detachment, Abnormal eyebrow morphology ORPHA:3437
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Corneal neovascularization, Keratoconjunctivitis sicca, Ectropion, Keratitis, E... OMIM:278730
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Blepharitis, Cataract, Sparse eyebrow, Sparse eyelashes, Keratitis, Conjunctivitis OMIM:612843
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Monilethrix
Cataract, Abnormal eyelash morphology, Abnormal eyebrow morphology ORPHA:573
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Optic nerve hypoplasia, Ptosis, ... OMIM:106210
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Cataract, Difficulty walking, Right ventricular dilatation ORPHA:369847
Weill-Marchesani Syndrome
Cataract, Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Ectopia lentis ORPHA:3449
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Gait disturbance ORPHA:588
Woolly Hair
Abnormal pupil morphology, Cataract, Sparse lateral eyebrow ORPHA:170
Proximal Myotonic Myopathy
Cataract ORPHA:606
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Cataract, Mitral valve prolapse, Ptosis OMIM:247410
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Sclerocornea, Microcornea, Cata... OMIM:612109
Charcot-Marie-Tooth Disease Type 4B2
Buphthalmos, Developmental glaucoma, Cataract, Inability to walk, Ptosis, Tip-toe gait, Difficult... ORPHA:99956
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Neuroocular Syndrome
Thick eyebrow, Blue irides, Nasolacrimal duct obstruction, Ptosis, Highly arched eyebrow, Patent ... OMIM:619539
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Ataxia, Gait ataxia, Pigmentary retinopathy, Gait disturbance, Bone spicule pigmentatio... ORPHA:88628
Proboscis Lateralis
Orbital cyst, Chorioretinal coloboma, Unilateral narrow palpebral fissure, Microcornea, Cataract,... ORPHA:141099
Frontofacionasal Dysplasia
Absent inner eyelashes, S-shaped palpebral fissures, Blepharophimosis, Microcornea, Cataract, Pto... OMIM:229400
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Cataract, Corneal opacity, Ataxia, Optic disc pallor ORPHA:309288
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract, Posterior blepharitis OMIM:619016
Papillorenal Syndrome
Orbital cyst, Cataract, Retinal detachment, Macular degeneration, Optic disc coloboma, Lens luxat... OMIM:120330
Agel Amyloidosis
Corneal ulceration, Blepharochalasis, Cataract, Ataxia, Bilateral ptosis, Keratoconjunctivitis si... ORPHA:85448
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Cata... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Splenomegaly, Downslanted palpebral fissures,... ORPHA:2969
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Inability to walk, Optic atrophy OMIM:617913
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Downslanted palpebral fissures, Aniridia, Ventricular septal defect, Iris... ORPHA:251038
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Cortical cataract, Unsteady gait, Retinal hamartoma, Pos... ORPHA:637
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Optic atrophy, Cataract, Ataxia, Cerul... ORPHA:67036
Transketolase Deficiency
Patent foramen ovale, Atrial septal defect, Cataract, Hepatomegaly, Abnormal heart morphology, Ve... ORPHA:488618
Microphthalmia, Syndromic 2
Developmental cataract, Aortic valve stenosis, Atrial septal defect, Thick eyebrow, Microcornea, ... OMIM:300166
Phace Syndrome
Tetralogy of Fallot, Heterochromia iridis, Sclerocornea, Cataract, Optic nerve hypoplasia, Ptosis... ORPHA:42775
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral valve calcification, Mitral stenosis, Opacification of the cor... OMIM:231005
Knobloch Syndrome
Cataract, Retinal detachment, Dextrocardia, Macular degeneration, Epicanthus, Ectopia lentis ORPHA:1571
Microphthalmia, Syndromic 5
Microcornea, Cataract, Optic nerve hypoplasia, Coloboma OMIM:610125
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Cataract, Ptosis OMIM:608279
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract, Corneal opacity, Retinal detachmen... ORPHA:649
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tetralogy of Fallot, Cataract, Sparse eyebrow, Ptosis, Eyelid coloboma, Sparse eyelashes, Epicanthus ORPHA:306542

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 Frmd6

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 Frmd6.

No publications found that use IMPC mice or data for Frmd6.

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MGI Allele Allele Type Produced
Frmd6em1(IMPC)H Exon Deletion Mice
Frmd6em3(IMPC)H Exon Deletion Mice

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