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Gene: Prmt8 MGI:3043083

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Gene Summary

Name:
protein arginine N-methyltransferase 8
Synonyms:
Hrmt1l4,  Hrmt1l3

Order Alleles

IMPC Data Collections

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 Prmt8tm1a(EUCOMM)Wtsi HOM   Early adult 7.61×10-06
abnormal lens morphology Prmt8tm1a(EUCOMM)Wtsi HOM   Early adult 1.26×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract 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)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
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 Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue 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)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus 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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Legacy Phenotype Associated Images
Prmt8tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Prmt8tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Prmt8tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Prmt8tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Prmt8tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI

View all 97 images

Prmt8tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt8tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt8tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Prmt8 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 Prmt8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract OMIM:618881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 47
Microcornea, Cataract OMIM:612018
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Depression, Focal dystonia, Gait ataxia, Progressive cerebellar at... OMIM:605361
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Nathalie Syndrome
Cataract OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Dysme... OMIM:618090
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Depression, Gait ataxia, Irritabilit... ORPHA:248111
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Schizophrenia 15
Hyperactivity OMIM:613950
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Dysequilibrium Syndrome
Cataract ORPHA:1766
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Ataxia OMIM:613402
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aniridia 3
Aniridia, Cataract OMIM:617142
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration OMIM:615924
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Cataract 24
Anterior polar cataract OMIM:601202
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Emotional lability, Social... ORPHA:98818
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Cataract 48
Cataract OMIM:618415
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unstea... ORPHA:228360
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Progressive Supranuclear Palsy
Impulsivity, Tremor, Unsteady gait, Dysphagia, Depression, Blepharospasm, Abnormal synaptic trans... ORPHA:683
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Congenital Varicella Syndrome
Cataract ORPHA:291
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Retinitis Pigmentosa 9
Cataract OMIM:180104
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Cahmr Syndrome
Lamellar cataract OMIM:211770
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Cerebellar atrophy, Hyperactivity, Ataxia, Impul... ORPHA:35069
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Retinitis Pigmentosa 84
Cataract OMIM:618220
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ... OMIM:610217
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Stickler Syndrome, Type V
Cataract OMIM:614284
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Achromatopsia 3
Cataract OMIM:262300
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-comp... ORPHA:168491
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Abnormal neuron morphology, Aggressive behavior, Stereotypical hand wringi... ORPHA:163681
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria... OMIM:620242
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... OMIM:601853
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ata... OMIM:103050
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... OMIM:300486
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... ORPHA:43
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... ORPHA:449291
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Blepharospasm, Choreoathetosis,... OMIM:234200
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Enlarged cerebellum, Ataxia OMIM:620047
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Argininemia
Cerebellar atrophy, Hyperactivity, Anorexia, Irritability, Spastic gait OMIM:207800
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Abnormal pons morphology, Aggressive behavior ORPHA:85327
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Choreoacanthocytosis
Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dyston... ORPHA:2388
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552

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 Prmt8

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 Prmt8.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Protein arginine methyltransferase 8 modulates mitochondrial bioenergetics and neuroinflammation after hypoxic stress. Journal of neurochemistry (August 2021) Prmt8tm1a(EUCOMM)Wtsi 34216036
The Protein Arginine Methyltransferase PRMT8 and Substrate G3BP1 Control Rac1-PAK1 Signaling and Actin Cytoskeleton for Dendritic Spine Maturation. Cell reports (June 2020) Prmt8tm1a(EUCOMM)Wtsi 32521269
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Prmt8tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Prmt8tm1a(EUCOMM)Wtsi PMC6459510
Arginine Methyltransferase PRMT8 Provides Cellular Stress Tolerance in Aging Motoneurons. The Journal of neuroscience : the official journal of the Society for Neuroscience (July 2018) Prmt8tm1a(EUCOMM)Wtsi 30054395
Loss of Protein Arginine Methyltransferase 8 Alters Synapse Composition and Function, Resulting in Behavioral Defects. The Journal of neuroscience : the official journal of the Society for Neuroscience (August 2017) Prmt8tm1c(EUCOMM)Wtsi Prmt8tm1a(EUCOMM)Wtsi PMC5588459
Network-based characterization of the synaptic proteome reveals that removal of epigenetic regulator Prmt8 restricts proteins associated with synaptic maturation. Journal of neurochemistry (January 2017) Prmt8tm1a(EUCOMM)Wtsi 27935040
PRMT8 as a phospholipase regulates Purkinje cell dendritic arborization and motor coordination. Science advances (December 2015) Prmt8tm1c(EUCOMM)Wtsi Prmt8tm1a(EUCOMM)Wtsi Prmt8tm1d(EUCOMM)Wtsi PMC4672763

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MGI Allele Allele Type Produced
Prmt8tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prmt8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Prmt8tm43072(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prmt8tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Prmt8tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) ES Cells

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