banner
Genes Phenotypes Help, News, Blog

Gene: Rnf220 MGI:1913993

Log in to follow

Gene Summary

Name:
ring finger protein 220
Synonyms:
5730503K05Rik,  4931406I20Rik

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
increased vertical activity Rnf220em1(IMPC)Bay HET Early adult 1.79×10-05
preweaning lethality, complete penetrance Rnf220em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

View images

Human diseases caused by Rnf220 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.

The table below shows human diseases associated to Rnf220 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, Ataxia OMIM:619688

The table below shows human diseases predicted to be associated to Rnf220 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Horner Syndrome, Congenital
Paralysis OMIM:143000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Variegate Porphyria
Paralysis OMIM:176200
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis OMIM:616287
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis ORPHA:43
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Babinski sign, Vocal cord paralysis, Frequent falls, Poor fine moto... ORPHA:99947
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Glioblastoma
Paralysis ORPHA:360
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Machado-Joseph Disease Type 1
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276241
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Machado-Joseph Disease Type 3
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276244
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor gross motor coordination, Frequent falls, Poor fine motor coordination ORPHA:99948
Amyotrophic Lateral Sclerosis
Babinski sign, Spasticity, Paralysis, Fasciculations ORPHA:803
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Inhalational Botulism
Paralysis ORPHA:254504
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia ORPHA:98897
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations ORPHA:682
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Gait ataxia OMIM:614895
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Poliomyelitis
Hyperkinetic movements, Paralysis, Paraparesis, Fasciculations ORPHA:2912
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Truncal ataxia, Kn... OMIM:211530
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia ORPHA:2396
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations OMIM:619574
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis ORPHA:37553
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis OMIM:615490
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor ORPHA:94080
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Frequent falls ORPHA:101097
Tick-Borne Encephalitis
Tongue fasciculations, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, Paralysis ORPHA:297
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Myoclonus, Vocal cord paralysis ORPHA:500144
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia OMIM:203700
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis OMIM:601152
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:261
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Hypertonia ORPHA:2072
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Tremor ORPHA:276621
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis OMIM:606071
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Vocal cord paralysis, Poor fine motor coordination ORPHA:99956
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, Athetoid cerebral palsy OMIM:617799
Arnold-Chiari Malformation Type I
Babinski sign, Gait ataxia, Vocal cord paralysis, Progressive cerebellar ataxia ORPHA:268882
Pineoblastoma
Paralysis ORPHA:251909
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Facial paralysis, Head tremor, Gait ataxia, Frequent f... ORPHA:99949
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Glossopharyngeal Neuralgia
Vocal cord paralysis ORPHA:221098
African Trypanosomiasis
Involuntary movements, Fasciculations, Abnormal central motor function, Tremor, Hemiparesis, Para... ORPHA:3385
Gitelman Syndrome
Paralysis ORPHA:358
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis ORPHA:600
Hereditary Pheochromocytoma-Paraganglioma
Vocal cord paralysis, Tremor ORPHA:29072
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Abnormal pyramidal sign, Hypertonia, Ataxia ORPHA:581
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Tremor ORPHA:91347
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Codas Syndrome
Vocal cord paresis OMIM:600373
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Spasticity OMIM:301030
Schinzel-Giedion Syndrome
Spasticity, Vocal cord paralysis, Hypertonia ORPHA:798
Esophageal Atresia
Vocal cord paresis, Hypertonia ORPHA:1199
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Degcags Syndrome
Vocal cord paralysis OMIM:619488
Acrofacial Dysostosis, Cincinnati Type
Abnormality of coordination, Lower limb spasticity, Myoclonus, Vocal cord paralysis OMIM:616462
Williams-Beuren Syndrome
Incoordination, Poor coordination, Vocal cord paralysis OMIM:194050
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, Ataxia OMIM:619688

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 Rnf220

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 Rnf220.

No publications found that use IMPC mice or data for Rnf220.

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
Rnf220em1(IMPC)Bay Exon Deletion Mice
Rnf220tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rnf220tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter