Gene Summary

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

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
narrow eye opening Frmd6em1(IMPC)H HOM Early adult 4.89×10-05
increased aggression Frmd6em1(IMPC)H HET Early adult 6.96×10-06
decreased locomotor activity Frmd6em1(IMPC)H HOM Early adult 4.54×10-05
abnormal vocalization Frmd6em1(IMPC)H HET Early adult 3.06×10-05
increased heart weight Frmd6em1(IMPC)H HOM Early adult 2.39×10-09
persistence of hyaloid vascular system Frmd6em1(IMPC)H HOM Early adult 1.45×10-08
cataract Frmd6em1(IMPC)H HOM Early adult 4.80×10-13
abnormal gait Frmd6em1(IMPC)H HOM Early adult 3.48×10-08

Download data as:  TSV  XLS

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

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

MicroCT E18.5

Embryo reconstruction

4 Images

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
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Epicanthus, Cataract, Downslanted palpebral fissures OMIM:614882
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Cataract, Optic atrophy OMIM:620312
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Cataract 42
Cataract, Developmental cataract OMIM:115900
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Gait disturbance, Ptosis ORPHA:1875
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract, Optic atrophy, Ataxia ORPHA:329314
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Cataract, Chorioretinal coloboma ORPHA:2489
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Loss of am... OMIM:204200
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... OMIM:224050
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Macular degeneration, Progr... ORPHA:284289
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Epicanthus, Cataract, Upslanted palpebral fissure ORPHA:2528
Mevalonic Aciduria
Splenomegaly, Cataract, Downslanted palpebral fissures, Ataxia ORPHA:29
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Downslanted palpebral fissures, Shuffling gait ORPHA:3433
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Cataract, Ptosis ORPHA:1373
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Upslanted palpebral fissure, Bone spicule pigmentation of the retina, Cataract, Retinal pigment e... OMIM:616108
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Alg2-Cdg
Hepatomegaly, Epicanthus, Cataract, Downslanted palpebral fissures, Iris coloboma ORPHA:79326
Refsum Disease, Classic
Cataract, Ataxia, Cardiomegaly, Cardiomyopathy, Retinal degeneration, Ptosis OMIM:266500
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Laurence-Moon Syndrome
Epicanthus, Cataract, Ataxia, Iris coloboma ORPHA:2377
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Downslanted palpebral fissures ORPHA:3173
Neurooculocardiogenitourinary Syndrome
Epicanthus, Ventricular septal defect, Cardiomegaly, Coloboma, Peters anomaly, Atrial septal defe... OMIM:618652
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Epicanthus, Cataract, Inability to walk, Abnormal heart morphology, Narrow palpebral fissure, Ast... OMIM:618571
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Upslanted palpebra... ORPHA:496790
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Optic atrophy, Dysmetria, Subcapsular cataract OMIM:612674
Cataract 47
Microcornea, Cataract OMIM:612018
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Ptosis ORPHA:1069
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Cataract, Dilated cardiomyopathy OMIM:618805
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... OMIM:212550
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Cardiomyopathy, Gai... OMIM:619259
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Ab... ORPHA:93399
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivit... OMIM:278730
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Ataxia, Pericardial effusion, Optic atrophy, Gait ataxia, Cardiomyopathy, Loss of ambul... OMIM:620089
Atelis Syndrome 2
Epicanthus, Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract, Supravalv... OMIM:620185
Aniridia 3
Aniridia, Cataract OMIM:617142
Vogt-Koyanagi-Harada Disease
Abnormal eyelash morphology, Retinal detachment, Cataract, Abnormal eyebrow morphology ORPHA:3437
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Cataract, Right ventricular dilatation, Difficulty walking, Truncal ... ORPHA:369840
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Wolfram Syndrome 1
Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Ptosis OMIM:222300
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis OMIM:612843
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis... OMIM:106210
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes, Cryp... OMIM:615877
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Cataract, Mitral valve prolapse, Ptosis OMIM:247410
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract... OMIM:612109
Neuroocular Syndrome
Synophrys, Lens coloboma, Microcornea, Patent foramen ovale, Iris coloboma, Hooded upper eyelid, ... OMIM:619539
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnor... ORPHA:141099
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Frontofacionasal Dysplasia
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... OMIM:229400
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Ifap Syndrome 2
Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Posterior subcapsular cataract, Unste... ORPHA:637
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... ORPHA:67036
Microphthalmia, Syndromic 2
Retinal detachment, Atrial septal defect, Remnants of the hyaloid vascular system, Ventricular se... OMIM:300166
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... ORPHA:42775
Acromelic Frontonasal Dysostosis
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Downslanted palpebr... OMIM:603671
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... OMIM:157170

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter