Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 1A
Synonyms:
Kns1,  C630002N23Rik,  ATSV,  LOC381283,  N-3 kinesin

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 Kif1a 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 Kif1a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kif1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Fasciculations, Axonal degeneration, Steppage gait, Axonal degene... OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Peripheral axonal degeneration, Cerebellar atrophy, Dysmetria, Hand tremor, Frequ... OMIM:302800
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... OMIM:604484
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Decreased number o... OMIM:208920
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration, Steppage gait, Gait disturbance OMIM:616155
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hypertrophic nerve changes, Axonal degeneration, Decreased number... OMIM:214400
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal low... OMIM:602433
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Lower limb spasticity,... ORPHA:101010
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Peripheral demyelination, Ataxia, Axonal degene... OMIM:604168
Horner Syndrome, Congenital
Paralysis OMIM:143000
Glut1 Deficiency Syndrome 1
Paralysis, EEG abnormality, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Myoc... OMIM:606777
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal sensory nerve conduction velocity, Ataxia, Impaired vibration s... ORPHA:88628
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Difficulty walking OMIM:605285
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Dystonia 31
Parkinsonism, Difficulty walking, Abnormal posturing OMIM:619565
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Dystonia, Cerebellar atroph... OMIM:617672
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, EEG abnormality, Apraxia, Ataxia, Spastici... ORPHA:71277
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia OMIM:606183
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Lower limb spas... ORPHA:320401
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Inability to walk, Axonal degeneration, Decreased number of peripheral myel... OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Intention tremor, Lower limb spasticity, ... OMIM:616948
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Diaminopentanuria
Spasticity, Ataxia, Neurodegeneration OMIM:222350
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Abnormal pyramidal sign, Action tremor, Parkinsonism, Cerebellar atrophy, Inten... ORPHA:98762
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Mitochondrial Dna Depletion Syndrome 18
Falls, Tongue fasciculations, Clonus, Axonal degeneration OMIM:618811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Distal sensory impairment, Axonal degeneration, Decreased number ... OMIM:608720
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Spastic tetraparesis, Dysmetria, Dystonia, Cerebell... OMIM:612319
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Neurodegeneration, Spastic paraparesis, Bradykinesia, Gait disturb... OMIM:615643
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, EEG abnormality, Involuntary movement... ORPHA:157941
Variegate Porphyria
Paralysis OMIM:176200
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration, Optic atrophy OMIM:610951
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Spastic gait, Dysmetria, Lower limb spasticity, Spastic paraplegia, Ataxia, P... OMIM:610357
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking OMIM:613710
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Parkinsonism, Dystonia, Ce... ORPHA:98759
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration, Decreas... OMIM:604320
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis OMIM:607641
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Spastic diplegia, Spastic parapar... ORPHA:206443
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis OMIM:162500
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Spasti... OMIM:616811
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Ataxia, Increased neuronal autof... OMIM:610127
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Spasticity, Postlingual sensorineural hearing impai... OMIM:304700
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Inability to walk, Tip-toe gait, Optic disc pallor, Spasticity, Gai... ORPHA:216866
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Ataxia, Axonal degeneration, Spasticity,... OMIM:278800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Choreoathetosis, Sensorineural hearing impairment, Facial palsy, Absent brainste... OMIM:617519
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Optic neuropathy, Axonal degeneration, Poor coordination,... ORPHA:478029
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Gai... OMIM:601455
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, He... ORPHA:280219
Adult Krabbe Disease
Tetraparesis, Frequent falls, EEG abnormality, Hoffmann sign, Ataxia, Gait disturbance, Upper mot... ORPHA:206448
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressive extrapyr... ORPHA:225147
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Abnormal pyramidal sign, Shuffling gait, Apraxia,... ORPHA:52368
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy of the spinal cord, Spastic gait, Axonal degeneration, At... ORPHA:139399
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Axonal loss, Cerebellar atrophy, Ataxia, Gait ataxia, Limb ataxia, Positive... OMIM:614575
Adult-Onset Autosomal Dominant Leukodystrophy
Action tremor, Orthostatic hypotension, Clonus, Tremor, Dysmetria, Abnormal autonomic nervous sys... ORPHA:99027
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia OMIM:616286
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Somatic sensory dysfunction, Dystonia, Resting tremor, Parkinsonism, Cer... ORPHA:909
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Dystonia, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration, Hypoesthesia OMIM:106100
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Vocal cord paralysis, Progressive cerebellar ataxia, Clumsiness, Abnorma... ORPHA:98757
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Nescav Syndrome
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Peripheral ax... OMIM:614255
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Parkinsonism, Dystonia, Abnormal lower motor neuron morphology, Neurodegenera... OMIM:614298
Primary Angiitis Of The Central Nervous System
Tetraparesis, Paralysis, Parkinsonism, Ataxia, Paraparesis, Hemiparesis, Pseudopapilledema ORPHA:140989
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Spastic paraplegia, Ataxia, Absent ... ORPHA:1215
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Dystonia 1, Torsion, Autosomal Dominant
Hypertonia, Blepharospasm, Torticollis, Abnormal posturing, Tremor OMIM:128100
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Intention tremor, B... OMIM:610217
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Dystonia, Ataxia, Lethargy, Chorea, Neurodegeneration, Death in infancy OMIM:618321
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Neurodegene... OMIM:272750
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decre... OMIM:256600
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Neurodegeneration, Chorea, Exaggerated start... ORPHA:309246
Paragangliomas 2
Vocal cord paralysis OMIM:601650
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Inability to walk, Fasciculations, Op... ORPHA:101085
X-Linked Adrenoleukodystrophy
Incoordination, Progressive hearing impairment, Paralysis, Gait disturbance, Paraparesis, Hemipar... ORPHA:43
Kanzaki Disease
Cerebral atrophy, Distal sensory impairment, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Global brain atrophy, Phonic tics, Abnormality of extrapyramidal motor function, Cerebr... OMIM:234200
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Spastic tetraplegia, Head titubation ORPHA:3240
Glioblastoma
Paralysis ORPHA:360
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Opti... OMIM:619260
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Hemiparesis, Myoclonus, Giant somatosensory evoked po... ORPHA:268943
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:83601
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
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
Brown-Vialetto-Van Laere Syndrome 1
Sensorineural hearing impairment, Vocal cord paralysis, Ataxia, Cranial nerve motor loss, Knee cl... OMIM:211530
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Bradykinesia, Ataxia, Rigidity, Neurodegeneration, Babinski sign, Tremor OMIM:146500
Infantile Krabbe Disease
Opisthotonus, Hearing impairment, Spastic diplegia, Lower limb spasticity, Decreased nerve conduc... ORPHA:206436
Japanese Encephalitis
Hypertonia, Paralysis, Opisthotonus, Choreoathetosis, EEG abnormality, Pill-rolling tremor, Inter... ORPHA:79139
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy, Hypertonia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy, Hypertonia ORPHA:529799
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic tetraplegia, Hearing impairment, Sensorineural hearing impairment, Spastic paraparesis, A... OMIM:609136
Machado-Joseph Disease Type 3
Abnormal pyramidal sign, Facial-lingual fasciculations, Vocal cord paralysis, Progressive cerebel... ORPHA:276244
Cockayne Syndrome Type 1
Lower limb spasticity, Ataxia, Macrotia, Abnormality of peripheral nerve conduction, Gait disturb... ORPHA:90321
Inhalational Botulism
Paralysis ORPHA:254504
Poliomyelitis
Paralysis, Abnormal motor nerve conduction velocity, Fasciculations, Inability to walk, Parapares... ORPHA:2912
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Charcot-Marie-Tooth Disease Type 4B2
Sensorineural hearing impairment, Inability to walk, Vocal cord paralysis, Decreased distal senso... ORPHA:99956
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Gait disturbance, Hypertonia ORPHA:682
Tick-Borne Encephalitis
Incoordination, Tinnitus, Paralysis, Abnormal cranial nerve morphology, Abnormality of the vestib... ORPHA:297
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Ataxia, Myoclonus, Hypertonia OMIM:203700
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Arnold-Chiari Malformation Type I
Tinnitus, Adult onset sensorineural hearing impairment, Vocal cord paralysis, Abnormality of the ... ORPHA:268882
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Vici Syndrome
Low-set ears, Sensorineural hearing impairment, Abnormal posturing OMIM:242840
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Poor motor coordin... ORPHA:171929
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Cockayne Syndrome A
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Abnormal auditory ... OMIM:216400
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Hemiplegia, Hemiparesis, Tetraplegia, Spasticity, Hypertonia ORPHA:2396
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia, Tremor ORPHA:79102
Cockayne Syndrome B
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Abnormal auditory ... OMIM:133540
Andersen-Tawil Syndrome
Low-set ears, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Periodic paralysis ORPHA:37553
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Rift Valley Fever
Paraparesis, Paralysis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Sensorineural hearing impairment, Spastic paraplegia, Oculomotor apraxia, Papilledema,... ORPHA:2072
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Mend Syndrome
Abnormal auditory evoked potentials, Limb hypertonia, Low-set ears ORPHA:401973
African Trypanosomiasis
Paralysis, Choreoathetosis, Involuntary movements, Fasciculations, Akinesia, Papilledema, Hemipar... ORPHA:3385
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Paralysis ORPHA:18
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Gitelman Syndrome
Tinnitus, Paralysis ORPHA:358
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Cerebral atrophy, Dystonia, Motor stereotypy, Oculogyric crisis, Bilateral gene... ORPHA:178469
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Tremor ORPHA:91347
Peho Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral cortical atrophy, Opti... ORPHA:2836
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970
Neuropathy, Hereditary Sensory, Type Iic
OMIM:614213

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 Kif1a

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 Kif1a.

No publications found that use IMPC mice or data for Kif1a.

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