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Gene: Otop1 MGI:2388363

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Gene Summary

Name:
otopetrin 1
Synonyms:
tlt,  A530025J20Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thymus morphology Otop1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Otop1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Otop1em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Otop1em1(IMPC)Ccpcz HOM Early adult 2.36×10-06
increased circulating aspartate transaminase level Otop1em1(IMPC)Ccpcz HOM Early adult 8.75×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Human diseases caused by Otop1 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 Otop1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic... ORPHA:251282
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Chorea, Ataxia, Dystonia, Athetosis ORPHA:382
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Huntington Disease-Like 1
Abnormal head movements, Abnormal posturing, Chorea, Gait ataxia, Dysmetria, Gait disturbance, Je... ORPHA:157941
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe... ORPHA:247815
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Jerky head movements, Ataxia, Dystonia, Choreoathetosis OMIM:245348
Huntington Disease-Like 3
Broad-based gait, Abnormal head movements, Chorea, Progressive gait ataxia, Dystonia ORPHA:157946
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Tremor, Jerky head movements, Focal dystonia, Bradykinesia ORPHA:240103
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineur... OMIM:304700
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Torticollis, ... OMIM:128100
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Chorea, Gait ataxia, Dystonia, Gait disturbance, Bradykinesia... ORPHA:225147
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthotonus, Gait dis... ORPHA:216866
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Spinocerebellar Ataxia Type 18
Hearing impairment, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Sandifer Syndrome
Abnormal head movements, Abnormal posturing ORPHA:71272
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Fragile X Syndrome
Abnormal head movements, Macrotia OMIM:300624
Ogden Syndrome
Low-set ears, Shuffling gait, Abnormal head movements, Lethargy, Torticollis, Macrotia ORPHA:276432
Epilepsy With Eyelid Myoclonia
Abnormal head movements ORPHA:139431
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Head tremor, Dystonic gait, Ataxia, Dystonia, Athetosis, Titubation ORPHA:280219
Spinocerebellar Ataxia Type 13
Hearing impairment, Difficulty walking, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia, Titu... ORPHA:98768
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Chorea, Gait ataxia, Dysmetria, Tremor, Spastic ataxia, Torticollis, Unsteady gait,... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Titubation, Dysmetria ORPHA:459056
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Childhood Absence Epilepsy
Jerky head movements ORPHA:64280
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Vici Syndrome
Low-set ears, Abnormal posturing, Sensorineural hearing impairment OMIM:242840
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hearing impairment, Jerky head movements ORPHA:369837
Unilateral Polymicrogyria
Abnormal posturing, Infantile sensorineural hearing impairment ORPHA:268943
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged polycystic ovari... ORPHA:744

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 Otop1

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 Otop1.

No publications found that use IMPC mice or data for Otop1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Otop1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otop1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otop1em1(IMPC)Ccpcz Exon Deletion Mice
Otop1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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