Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Ly6/neurotoxin 1
Synonyms:
N/A

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 Lynx1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lynx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... OMIM:604213
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Dysmetria, Neurodegeneration, Cognitive impairment, Axonal degeneration, Atax... OMIM:615157
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalop... OMIM:615889
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dementia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:302800
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... OMIM:602433
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly OMIM:618276
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... OMIM:610031
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Cognitive impa... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Lissencephaly 3
Pachygyria, Ataxia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Cerebellar vermis ... OMIM:611603
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy, Mental deterioration OMIM:610951
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Impaired vibration sensat... OMIM:610245
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Cognitive... ORPHA:300573
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Lissencephaly 4
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... OMIM:614019
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white matter morphology OMIM:618138
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Axonal loss, Chorea, Neurodegeneration, Peripheral demyelination, Ataxia, Cer... OMIM:617672
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hypoplasia of the corpus ... OMIM:608716
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal degener... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Progressive neurologic deteriorati... OMIM:252650
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... OMIM:614039
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Dementia, Amyotrophic lateral sclerosis, Frontotemporal dementia, Neurofibrillary tangles, Memory... OMIM:619132
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degeneration, M... OMIM:616811
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brainstem, Neuro... OMIM:612319
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Global brain atrophy, Diffuse cerebellar atrophy, Neurodegeneration, Axonal deg... ORPHA:478029
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Abn... ORPHA:255182
Alzheimer Disease 9, Susceptibility To
Memory impairment, Senile plaques, Hippocampal atrophy, Neurofibrillary tangles, Cerebral cortica... OMIM:608907
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Lissencep... OMIM:614833
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... ORPHA:250972
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Brain atrophy, Cerebral atrophy... ORPHA:85179
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Dementia, Senile plaques DECIPHER:48
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... OMIM:608720
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Cognitive impairment, Optic nerve ... OMIM:615181
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Axonal degeneration, Positive Romberg sign, Impaired vibration sensation... ORPHA:88628
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Cognitiv... ORPHA:139399
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Mi... OMIM:617669
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis of corpus callosum,... OMIM:617090
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Periventricular heterotopia, Neurodegeneration, Ataxia, Cerebellar hypoplasia, Abn... OMIM:618476
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Neurodegeneration With Brain Iron Accumulation 5
Neurodegeneration, Dementia, Cerebellar atrophy, Cerebral atrophy OMIM:300894
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Alzheimer Disease 4
Dementia, Cognitive impairment, Senile plaques, Cerebral amyloid angiopathy, Neurofibrillary tang... OMIM:606889
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Brain atrophy, Small basal ganglia, Per... OMIM:616900
Lissencephaly Type Iii And Bone Dysplasia
Central nervous system degeneration, Microlissencephaly, Agenesis of cerebellar vermis, Neuronal ... OMIM:601160
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Axonal degeneration, Decreased nerve conduction velocity, Degener... OMIM:604320
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebellar atrophy, Dysmetria, Chorea, Neurodegeneration, Lewy bodies, Dysdiadocho... OMIM:610217
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Cerebellar cyst, Dysplastic corpus callosum, Choreoathetosis, Cerebel... ORPHA:2524
Kanzaki Disease
Peripheral axonal neuropathy, Cognitive impairment, Axonal degeneration, Distal sensory impairmen... OMIM:609242
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal cerebellum m... ORPHA:101070
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques OMIM:605055
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia, Microcephaly ORPHA:438134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... OMIM:218670
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Neuronal loss in central nervous system, Memory impairment, Lewy bodies,... OMIM:607485
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:604360
Craniotelencephalic Dysplasia
Optic atrophy, Arrhinencephaly, Septo-optic dysplasia, Cerebellar hypoplasia, Lissencephaly, Agen... ORPHA:1528
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Optic atrophy, Cerebellar atrophy, Optic disc pallor, Opti... ORPHA:909
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, S... ORPHA:255138
Gerstmann-Straussler Disease
Dementia, Cerebellar atrophy, Truncal ataxia, Neurofibrillary tangles, Limb ataxia, Gait ataxia, ... OMIM:137440
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:616342
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... OMIM:615960
Neurodegeneration With Brain Iron Accumulation 6
Mental deterioration, Neurodegeneration, Motor axonal neuropathy, Hypoplasia of the corpus callosum OMIM:615643
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cere... ORPHA:168486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Facial palsy, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Mic... OMIM:613155
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Memory impairment, Ataxia, Neurofibrillary tangles, Cerebral cortica... ORPHA:1020
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Cerebellar atrophy, Microlissencephaly, Periventricular ... OMIM:616212
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Cerebellar cyst, Cerebellar glio... ORPHA:79243
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum, Chiari type I malformation ORPHA:459074
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Cerebellar vermis hypoplasia, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait a... ORPHA:453521
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dandy-Walker malformation, Dysplastic corpus callosum, Dilated fourth ventricle, Prima... ORPHA:357058
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, De... OMIM:256600
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Cerebellar atrophy, Agenesis of corpus callosum, Microlissence... ORPHA:89844
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Diffuse axonal swelling, Neuronal loss in the cerebral c... ORPHA:86822
Alzheimer Disease 3
Neurofibrillary tangles, Dementia, Cerebral cortical atrophy, Memory impairment OMIM:607822
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Ataxia, Cerebral atrophy OMIM:615491
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, ... ORPHA:370959
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Lewy bodies, Mental deterioration, Neurofibrillary tangles, Cerebral cortical atrophy OMIM:616840
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Cognitive impairment, Inferior v... ORPHA:370022
Alzheimer Disease 2
Neurofibrillary tangles, Dementia OMIM:104310
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Fa... OMIM:616239
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Dementia OMIM:104300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Optic nerve dysplasia, Cerebellar hypoplasia, Gray matter... OMIM:615287
Craniosynostosis 6
Dandy-Walker malformation, Cerebellar atrophy, Abnormal corpus callosum morphology, Agenesis of c... OMIM:616602
Myopathy With Extrapyramidal Signs
Optic atrophy, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal capsule, Pe... OMIM:615673
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Dilation of lateral ve... OMIM:618736
Microhydranencephaly
Athetosis, Hydranencephaly, Pachygyria, Cerebellar hypoplasia, Agenesis of corpus callosum, Micro... OMIM:605013
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Dementia, Cerebellar atrophy, Neurodegeneration, Lewy bodies, Ataxia, Abnormal low... OMIM:614298
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Fu... OMIM:617542
Neurodegeneration With Brain Iron Accumulation 3
Dementia, Choreoathetosis, Chorea, Neurodegeneration, Ataxia, Subcortical dementia, Cavitation of... OMIM:606159
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Cerebellar atrophy, Dysplastic corpus callosum, Focal po... OMIM:619103
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Chorea, Cognitive impairment, Neurodegeneration, C... ORPHA:309246
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Dementia, Neurodegeneration, Truncal ataxia, Abnormal cer... OMIM:300100
Niemann-Pick Disease, Type C1
Dementia, Neuronal loss in central nervous system, Ataxia, Neurofibrillary tangles, Gait ataxia OMIM:257220
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Dysplastic corpus callosum, Cerebellar hypoplasia OMIM:618810
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Progressive microceph... ORPHA:488627
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Dementia, Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:117300
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the pons, Primary microceph... ORPHA:500144
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Ataxia, Cerebellar vermis hypoplasia, Gray matter heterotopia, Hypopl... ORPHA:314679
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis, Microcephaly OMIM:218900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Neurodegeneration, Abnormal cerebral white matter morphology, Ataxia, Cerebral edema, Cer... OMIM:618321
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Patent ductus arteriosus, Polymicrogyria, Cerebellar hypoplasia, Abnormal p... ORPHA:500159
Oculocerebrodental Syndrome
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus callos... OMIM:619179
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Cerebellar atrophy, Microcephaly, Neurodegeneration OMIM:615919
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Polymicrogyria, Patent ductus arteriosus ORPHA:2328
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Frontolimbic dementia, Neuronal loss in central nervous system, G... OMIM:609454
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Gray matt... OMIM:617822
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Frontolimbic dementia, Neuronal loss in central nervous system, G... OMIM:601104
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Hypoplasia of the corpus callosum, Brain atrophy, Enlarged cerebellum, Microcephaly ORPHA:85165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Partial absence of cerebellar vermis, Cerebellar dysplasia, Pachygyria, Cerebell... OMIM:613150
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Niemann-Pick Disease, Type C2
Ataxia, Dementia, Neurofibrillary tangles OMIM:607625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Optic atrophy, Cerebellar dysplasia, Optic nerve hypoplasia, Pachygyri... OMIM:236670
Adult-Onset Dystonia-Parkinsonism
Frontotemporal dementia, Neurofibrillary tangles, Generalized cerebral atrophy/hypoplasia, Fronto... ORPHA:199351
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus ORPHA:363444
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Pineal cyst, Dysplastic corpus callosum, Thick corpus callosum, Patent ductus arteriosus, Ataxia,... OMIM:300967
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Polymicrogyria, Gray matter h... OMIM:618820
Zttk Syndrome
Optic atrophy, Dysplastic corpus callosum, Patent ductus arteriosus, Periventricular leukomalacia... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Patent ductus arteriosus after birth at term, Chiari malformation, Dysplastic corp... ORPHA:500150
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Dysmetria, Bilateral perisylvian polymicrogyria, Cerebellar dy... ORPHA:98889
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Ataxia, Anterior pituitary hypoplasia, Cere... ORPHA:466791
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dandy-Walker malformation, Optic atrophy, Cerebellar atrophy, Cerebellar dysplasia, Patent ductus... ORPHA:487796
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cerebellar cyst, Cerebellar dysplasia, Pachygyria, Polymicrogyria, Aplasia/Hypopla... OMIM:253280
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Dysplas... OMIM:613406
Cog1-Cdg
Cerebellar dysplasia, Cerebellar vermis hypoplasia, Progressive microcephaly, Temporal cortical a... ORPHA:263508

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 Lynx1

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 Lynx1.

No publications found that use IMPC mice or data for Lynx1.

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MGI Allele Allele Type Produced
Lynx1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Lynx1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lynx1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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