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Gene: Kif1a MGI:108391

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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

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IMPC Data Collections

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

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.

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Neuropathy, Hereditary Sensory, Type Iic
Hypoesthesia, Impaired distal vibration sensation, Impaired distal proprioception OMIM:614213
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral cortical atrophy, Atrophy/Degeneration affecting the ... ORPHA:2836
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970

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
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per... OMIM:208920
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, EEG abnormality, Myoclonus, Spast... OMIM:606777
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Babinski sign, Axonal degeneration, Cerebral atro... OMIM:604168
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking OMIM:619565
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, EEG abnormality, Hypertonia, Myoclonus, ... ORPHA:71277
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... ORPHA:320401
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... OMIM:620011
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign... ORPHA:98762
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls, Clonus, Tongue fasciculations OMIM:618811
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Paralysis OMIM:605285
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... ORPHA:157941
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... OMIM:615889
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, D... OMIM:615643
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Ataxia,... OMIM:615491
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis OMIM:613710
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis OMIM:162500
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... ORPHA:206443
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... OMIM:616811
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Axonal degeneration, Diaphra... OMIM:604320
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Abnormal posturing, Progressive sensorineur... OMIM:304700
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atrophy, Optic atrophy, Choreo... OMIM:278800
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Abnormal posturing, Opisthotonus, Tip-toe gait, Gait distur... ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Blepharospasm, Cho... OMIM:606159
Variegate Porphyria
Paralysis OMIM:176200
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... ORPHA:280219
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at... OMIM:610127
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... ORPHA:225147
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di... ORPHA:478029
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Tremor, Inability to walk, Sensorineural hearing impairment,... ORPHA:52368
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Facial palsy, Tremor, Inability to walk, Babinski sign, Blepharospasm, Hypertonia, A... OMIM:128100
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... ORPHA:139399
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Lethal Congenital Contracture Syndrome 8
Neonatal death, Facial diplegia, Vocal cord paralysis OMIM:616287
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Broad-based gait, Gait ataxia, Steppage gait, Difficul... OMIM:614895
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Optic disc pallor, Ataxia, Parki... ORPHA:909
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive spastic par... ORPHA:206448
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Sensorineural hearing impairment, Babinski sign, Vocal cord paralysis, Inability... ORPHA:99947
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... OMIM:610217
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
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
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Death i... OMIM:618321
Glioblastoma
Paralysis ORPHA:360
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Spastic tetraplegia ORPHA:3240
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Facial palsy, Hearing impairment, Sensorineural hearing impairment, Vocal cord paralysis,... OMIM:211530
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Japanese Encephalitis
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... ORPHA:79139
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... ORPHA:206436
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin... ORPHA:397744
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait d... ORPHA:90321
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... ORPHA:99956
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations ORPHA:682
Inhalational Botulism
Paralysis ORPHA:254504
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, Hyperkinetic... ORPHA:2912
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Neuropathy, Hereditary Sensory, Type Iic
Hypoesthesia, Impaired distal vibration sensation, Impaired distal proprioception OMIM:614213
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal cranial nerve morpholog... ORPHA:297
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Optic atrophy, Hypsarrhythmia, Increased cup-to-disc ratio, Myoclonus, Spas... ORPHA:500144
Arnold-Chiari Malformation Type I
Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the twelfth crania... ORPHA:268882
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... ORPHA:79102
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis, Pulsatile tinnitus OMIM:605373
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Low-set ears, Periodic paralysis ORPHA:37553
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Vocal cord paralysis, Pulsatile tinnitus OMIM:168000
Cockayne Syndrome A
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... OMIM:216400
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... OMIM:133540
Vici Syndrome
Abnormal posturing, Low-set ears, Sensorineural hearing impairment OMIM:242840
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Paralysis, Sensorineural hearing impairment, Spastic paraplegia, L... ORPHA:2072
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Low-set ears, Periodic paralysis OMIM:170390
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Limb hypertonia ORPHA:401973
African Trypanosomiasis
Papilledema, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor,... ORPHA:3385
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Paralysis ORPHA:18
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Gitelman Syndrome
Tinnitus, Paralysis ORPHA:358
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral cortical atrophy, Atrophy/Degeneration affecting the ... ORPHA:2836
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970

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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