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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
decreased locomotor activity Frmd6em1(IMPC)H HOM Early adult 2.36×10-05
abnormal vocalization Frmd6em1(IMPC)H HET Early adult 3.06×10-05
increased aggression Frmd6em1(IMPC)H HET Early adult 6.96×10-06
narrow eye opening Frmd6em1(IMPC)H HOM Early adult 3.94×10-05
cataract Frmd6em1(IMPC)H HOM Early adult 3.57×10-14
increased heart weight Frmd6em1(IMPC)H HOM Early adult 2.89×10-09
abnormal gait Frmd6em1(IMPC)H HOM Early adult 3.48×10-08
persistence of hyaloid vascular system Frmd6em1(IMPC)H HOM Early adult 2.18×10-09

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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 Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 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
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, 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, Gait disturbance, Ataxia 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
Cataract, Unsteady gait, Optic atrophy OMIM:620312
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cataract 42
Cataract, Developmental cataract OMIM:115900
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Per... ORPHA:1067
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Retinal detachmen... ORPHA:1473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Galactosemia Iv
Hepatomegaly, Cataract OMIM:618881
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Cataract, Optic atrophy, Bilateral ptosis ORPHA:329314
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Chorioretinal coloboma, Cataract ORPHA:2489
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Broad-based gait, Gait ataxia, Dysmetria, Cerebellar ataxia associated with quadrupedal... OMIM:224050
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Ptosis, Gait disturbance ORPHA:1875
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progr... ORPHA:284289
Mevalonic Aciduria
Ataxia, Cataract, Splenomegaly, Downslanted palpebral fissures ORPHA:29
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Microcornea, Upslanted palpebral fissure, Cataract ORPHA:2528
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Shuffling gait, Downslanted palpebral fissures ORPHA:3433
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis, Cataract ORPHA:1373
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Coats Disease
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea 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
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration OMIM:614292
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy OMIM:618220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Bone spicule pigmentation of the retina, Upslanted palpebral fissure, Retinal pigment e... OMIM:616108
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Alg2-Cdg
Cataract, Downslanted palpebral fissures, Epicanthus, Hepatomegaly, Iris coloboma ORPHA:79326
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Refsum Disease, Classic
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Ptosis, Ataxia OMIM:266500
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism, Ataxia ORPHA:231183
Stickler Syndrome Type 2
Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:613731
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Laurence-Moon Syndrome
Epicanthus, Iris coloboma, Cataract, Ataxia ORPHA:2377
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Cataract, Optic disc pallor, Downslanted palpebral fissures ORPHA:3173
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Difficulty walking, Hepatomegaly, Truncal ataxia, Waddling gait ORPHA:369840
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Epicanthus, Colobo... OMIM:618652
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Horizontal eyebrow, Retinal coloboma, Abnormal heart morphology, Difficulty walking, In... OMIM:618571
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Frontofacionasal Dysplasia
Iris coloboma, Microcornea, Cataract, Telecanthus, Absent inner eyelashes, Upper eyelid coloboma,... ORPHA:1791
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma OMIM:613835
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Upslanted palpebral fissure, C... ORPHA:496790
Morning Glory Disc Anomaly
Cataract, Retinal detachment, 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, Optic atrophy, Dysmetria, Subcapsular cataract, Ataxia OMIM:612674
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Ptosis ORPHA:1069
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Broad-based gait, Dilated cardiomyopathy OMIM:618805
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Pterygium, Hypertrophic cardiomyopathy, Concentric hypertrophic cardio... OMIM:618052
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Limb ataxia, Gait ataxia, Cardiomegaly, Gait disturbance, Ataxia, ... OMIM:619259
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Downslanted p... OMIM:620609
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Dysmetria,... ORPHA:93399
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Entropion, Keratoconjunctivitis sicca, Ataxia, E... OMIM:278730
Nasopalpebral Lipoma-Coloboma Syndrome
Hamartoma of the orbital region, Sparse eyebrow, Cataract, Lacrimal punctal atresia, Telecanthus,... ORPHA:2399
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Optic atrophy, Cardiomyopathy, Gait ataxia, Loss of ambulation, Ataxia, Pericardial eff... OMIM:620089
Aniridia 3
Cataract, Aniridia OMIM:617142
Atelis Syndrome 2
Short palpebral fissure, Dysmetria, Dacryocystocele, Epicanthus, Developmental cataract, Remnants... OMIM:620185
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Retinal detachment, Abnormal eyelash morphology, Cataract ORPHA:3437
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Difficulty walking, Truncal ataxia, Right ventricular dilatation, Cataract ORPHA:369847
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Aniridia 1
Cataract, Ectopia lentis, Ectopia pupillae, Bilateral ptosis, Hypoplasia of the iris, Aniridia, C... OMIM:106210
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Sparse eyebrow, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis OMIM:612843
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Ptosis, Ataxia OMIM:222300
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Telecanthus, Ptosis, Mitral valve prolapse OMIM:247410
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Coloboma, S... OMIM:615877
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Neuroocular Syndrome 1
Hooded upper eyelid, Lens coloboma, Brushfield spots, Iris coloboma, Cataract, Microcornea, Peter... OMIM:619539
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Frontofacionasal Dysplasia
Cataract, Microcornea, Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Pto... OMIM:229400
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Microcornea, Cataract,... ORPHA:141099
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,... OMIM:616468
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Ifap Syndrome 2
Cataract, Posterior blepharitis, Keratitis, Keratoconjunctivitis sicca OMIM:619016
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Optic neuropathy, Cardiac amyloidosis, Lattice corneal dystrophy OMIM:105120
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Fuchs Heterochromic Iridocyclitis
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa... ORPHA:263479
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system, Unste... ORPHA:637
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula... OMIM:101000
Microphthalmia, Syndromic 2
Aortic valve stenosis, Microcornea, Thick eyebrow, Laterally curved eyebrow, Ventricular septal d... OMIM:300166
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Phace Syndrome
Cataract, Tetralogy of Fallot, Abnormal heart morphology, Heterochromia iridis, Ptosis, Sclerocor... ORPHA:42775
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... ORPHA:649
Acromelic Frontonasal Dysostosis
Downslanted palpebral fissures, Telecanthus, Ptosis, Remnants of the hyaloid vascular system, Opt... OMIM:603671
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Single ventricle, Cyclopia, Iris... 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.

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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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