Gene Summary

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

IMPC Data Collections

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
preweaning lethality, complete penetrance Rnf220em1(IMPC)Bay HOM Early adult 0.00
preweaning lethality, incomplete penetrance Rnf220em1(IMPC)Bay HOM   Early adult 0.00
increased vertical activity Rnf220em1(IMPC)Bay HET Early adult 4.48×10-06

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Myoclonus OMIM:606777
Split Cord Malformation Type I
Diastomatomyelia ORPHA:1671
Horner Syndrome, Congenital
Paralysis OMIM:143000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Hemiparesis, ... ORPHA:71277
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia OMIM:606183
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
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
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Variegate Porphyria
Paralysis OMIM:176200
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Primary Lateral Sclerosis
Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy ORPHA:35689
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Alzheimer Disease 2
Long-tract signs OMIM:104310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Vocal cord paralysis, Progressive cerebellar ataxia, Clumsiness, Abnorma... ORPHA:98757
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Paralysis, Ataxia, Paraparesis, Hemiparesis ORPHA:140989
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
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
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Chorea, Exaggerated startle response, H... OMIM:272750
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology OMIM:607694
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
Paragangliomas 2
Vocal cord paralysis OMIM:601650
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Hand tremor, Vocal cord paralysis, Postural tremor, Babinski sign, Poor fine moto... ORPHA:99947
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Glioblastoma
Paralysis ORPHA:360
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness ORPHA:43
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
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Myoclonus ORPHA:83601
Machado-Joseph Disease Type 1
Abnormal pyramidal sign, Facial-lingual fasciculations, Vocal cord paralysis, Progressive cerebel... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal pyramidal sign, Facial-lingual fasciculations, Vocal cord paralysis, Progressive cerebel... ORPHA:276241
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Inhalational Botulism
Paralysis ORPHA:254504
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis OMIM:614895
Machado-Joseph Disease Type 3
Abnormal pyramidal sign, Facial-lingual fasciculations, Vocal cord paralysis, Progressive cerebel... ORPHA:276244
Japanese Encephalitis
Hypertonia, Paralysis, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Cogwheel rigidity, Wea... ORPHA:79139
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Frequent falls, Poor gross motor coordination, Poor fine motor coordination ORPHA:99948
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Ataxia, Myoclonus, Hypertonia OMIM:203700
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Brown-Vialetto-Van Laere Syndrome 1
Vocal cord paralysis, Ataxia, Knee clonus, Tongue fasciculations, Clumsiness, Ankle clonus OMIM:211530
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Spasticity, Head ti... OMIM:301790
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia ORPHA:98897
Hyperkalemic Periodic Paralysis
Fasciculations, Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia ORPHA:682
Poliomyelitis
Paraparesis, Fasciculations, Paralysis, Hyperkinetic movements ORPHA:2912
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis OMIM:615490
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Hemiplegia, Hemiparesis, Tetraplegia, Spasticity, Hypertonia ORPHA:2396
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia, Tremor ORPHA:79102
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Frequent falls ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Polyminimyoclonus, Tremor OMIM:619574
Tick-Borne Encephalitis
Incoordination, Paralysis, Speech apraxia, Tongue fasciculations, Hyperkinetic movements, Tremor ORPHA:297
Andersen-Tawil Syndrome
Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Periodic paralysis ORPHA:37553
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor ORPHA:94080
Rift Valley Fever
Paraparesis, Paralysis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Paragangliomas 3
Vocal cord paralysis OMIM:605373
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Spasticity, Myoclonus ORPHA:500144
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Paragangliomas 1
Vocal cord paralysis OMIM:168000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Spastic paraplegia, Limb ataxia, Oculomotor apraxia, Hypertonia ORPHA:2072
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis OMIM:601152
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis OMIM:606071
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
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Pineoblastoma
Paralysis ORPHA:251909
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Tremor ORPHA:276621
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Babinski sign, Vocal cord paralysis, Gait ataxia ORPHA:268882
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Charcot-Marie-Tooth Disease Type 4B2
Poor fine motor coordination, Vocal cord paralysis, Tremor ORPHA:99956
African Trypanosomiasis
Paralysis, Choreoathetosis, Involuntary movements, Fasciculations, Hemiparesis, Abnormal central ... ORPHA:3385
Gitelman Syndrome
Paralysis ORPHA:358
Glossopharyngeal Neuralgia
Vocal cord paralysis ORPHA:221098
Charcot-Marie-Tooth Disease Type 4C
Frequent falls, Vocal cord paresis, Head tremor, Gait ataxia, Tongue fasciculations, Facial paral... ORPHA:99949
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
Van Esch-O'Driscoll Syndrome
Spasticity, Unilateral vocal cord paralysis OMIM:301030
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Tremor ORPHA:91347
Mucopolysaccharidosis Type 3
Abnormal pyramidal sign, Vocal cord paresis, Ataxia, Spasticity, Hypertonia ORPHA:581
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Schinzel-Giedion Syndrome
Vocal cord paralysis, Spasticity, Hypertonia ORPHA:798
Codas Syndrome
Vocal cord paresis OMIM:600373
Degcags Syndrome
Vocal cord paralysis OMIM:619488
Esophageal Atresia
Vocal cord paresis, Hypertonia ORPHA:1199
Williams-Beuren Syndrome
Incoordination, Vocal cord paralysis, Poor coordination 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.

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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

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