Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lipoxygenase homology domains 1
Synonyms:
1700096C21Rik,  sba

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 Loxhd1 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 Loxhd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079

The table below shows human diseases predicted to be associated to Loxhd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Abnormal vestibular function OMIM:616044
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Vestibular areflexia, Diffuse cerebral atrophy, Absent brainstem auditory responses ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Sensorineural hearing impai... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Deafness, Unilateral
Unilateral deafness OMIM:125000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Brain atrophy, Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response, Cerebral cortical atrophy, Macrotia, EEG wi... OMIM:617864
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Cerebellar atrophy, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Brain atrophy, Tremor, Cerebellar atrophy, Exaggerated startle response, Hearing impairment, Cere... OMIM:620327
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-... OMIM:609136
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Re... ORPHA:909
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Cockayne Syndrome Type 1
Optic atrophy, Tremor, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnorma... ORPHA:90321
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Dystonia, Neurodegeneration, Exaggerated startle response ORPHA:309246
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response OMIM:617281
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Asparagine Synthetase Deficiency
Global brain atrophy, Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle respons... OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Cerebellar cortical atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Se... ORPHA:521426
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:216400
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:133540
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Tremor, Cerebellar atrophy, Exaggerated startle response, He... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Dystonia, Neurodegeneration, Exaggerated startle response OMIM:272750
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormal pinna morphology, Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Cerebellar atrophy, Exaggerated startle response OMIM:618056
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Cerebellar atrophy, Low-set ears, Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Cerebral cortical atrophy, Posteriorly... OMIM:617527
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Diffuse cerebral atrophy ORPHA:79255
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Exaggerated startle response ORPHA:309155
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Dystonia, EEG with burst suppression, Exaggerated startle response OMIM:620423
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Cerebellar atrophy, Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Optic disc pallor, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears OMIM:619522

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 Loxhd1

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 Loxhd1.

No publications found that use IMPC mice or data for Loxhd1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Loxhd1tm112255(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter