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:
3110039L19Rik,  C330002I19Rik

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
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilation of lateral ventricles OMIM:617296

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
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
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Syncope, Atrial fibrillation, Abnormal left ventricular function, Tr... ORPHA:75249
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Neonatal death, Paucity of anterior horn motor neurons OMIM:611890
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Abnormal motor neuron morphology, Congestive heart failure, Amyotrophic lateral s... ORPHA:52430
Capillary Malformation-Arteriovenous Malformation
Cerebral arteriovenous malformation, Abnormal heart morphology, Telangiectasia, Epistaxis, Conges... ORPHA:137667
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
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
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Right atrial enlargement, Restrictive cardiomyo... OMIM:619313
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal lower motor neuron morphology ORPHA:93941
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
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
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma... OMIM:610655
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:600376
Parkes Weber Syndrome
Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Spinal arteriovenous malformation, ... ORPHA:90307
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hematochezia, Epistaxis, Mitral valve prolapse, Mitral regur... OMIM:175050
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology OMIM:607694
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal car... ORPHA:42775
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Abnormal lower motor neuron morphology, Spinocerebellar tract degenerat... ORPHA:276244
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Juvenile Polyposis Syndrome
Cerebral arteriovenous malformation, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxi... ORPHA:2929
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons ORPHA:79139
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilation of lateral ventricles 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.

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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
Kidins220tm112964(L1L2_Bact_P) Targeting vectors

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