Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
kinase D-interacting substrate 220
Synonyms:
C330002I19Rik,  3110039L19Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Kidins220 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 Kidins220 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation OMIM:617296

The table below shows human diseases predicted to be associated to Kidins220 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Cardiogenic shock, Dilated cardiomyopathy, Myocard... OMIM:619424
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... ORPHA:99104
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... ORPHA:555877
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology OMIM:611890
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Cerebral arteriovenous malformation, Hydrocephalus, Congestive... ORPHA:137667
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Congestive heart failure, Amyotrophic lateral sclerosis, Cardio... ORPHA:52430
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... OMIM:616028
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
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology ORPHA:93941
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... ORPHA:35689
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology ORPHA:275872
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology OMIM:263570
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Parkes Weber Syndrome
Bounding pulse, Conus terminalis arteriovenous malformation, Cerebral arteriovenous malformation,... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 2
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Palate telangiectasia, Ischemic stroke, Cerebral hemorrhage, Nasal mucosa telangiectasia, Transie... OMIM:610655
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Telangiectasia, Hereditary Hemorrhagic, Type 1
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... OMIM:187300
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Left... OMIM:614008
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Cerebral arteriovenous malformation, Mitral valve prolapse, Epistaxis, Mitral reg... OMIM:175050
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Phace Syndrome
Abnormal cardiac septum morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Dilated fourth ventri... ORPHA:276244
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial infarction, Partial anomal... OMIM:150230
Juvenile Polyposis Syndrome
Pulmonary arterial hypertension, Mucosal telangiectasiae, Transient ischemic attack, Cerebral art... ORPHA:2929
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord ORPHA:79139
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation OMIM:617296

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 Kidins220

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 Kidins220.

No publications found that use IMPC mice or data for Kidins220.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kidins220tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kidins220tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kidins220tm112964(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kidins220tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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