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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
decreased body weight Otop1em1(IMPC)Ccpcz HOM Early adult 2.21×10-06
increased circulating alanine transaminase level Otop1em1(IMPC)Ccpcz HOM Early adult 9.50×10-05
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
increased circulating aspartate transaminase level Otop1em1(IMPC)Ccpcz HOM Early adult 4.28×10-05

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 Hind Leg and Hip

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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 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
Abnormal head movements, Chorea OMIM:616939
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... OMIM:619565
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... ORPHA:251282
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Ataxia, Chorea, Athetosis, Dystonia ORPHA:382
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Huntington Disease-Like 1
Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal... ORPHA:157941
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Chorea, Progressive gait ataxia, Dystonia ORPHA:157946
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Tremor, Focal dystonia, Bradykinesia, Jerky head movements ORPHA:240103
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing... OMIM:304700
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, B... OMIM:128100
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Chorea, Titubation, Gait ataxia, Bradykinesia, Gait disturbance, Dystonia, Abnorm... ORPHA:225147
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Abnormal p... ORPHA:216866
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor, Hearing impairment ORPHA:98771
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Sandifer Syndrome
Abnormal head movements, Abnormal posturing ORPHA:71272
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Dysmetr... OMIM:609270
Fragile X Syndrome
Abnormal head movements, Macrotia OMIM:300624
Ogden Syndrome
Abnormal head movements, Torticollis, Shuffling gait, Low-set ears, Lethargy, Macrotia ORPHA:276432
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Gait ataxia, Bradykine... ORPHA:98768
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Dystonic gait, Titubation, Athetosis, Difficulty walking, Head tremor ORPHA:280219
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Tremor, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Titubation, T... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Dysmetria, Titubation ORPHA:459056
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Childhood Absence Epilepsy
Jerky head movements ORPHA:64280
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Vici Syndrome
Abnormal posturing, Low-set ears, Sensorineural hearing impairment OMIM:242840
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Low-set ears, Hearing impairment ORPHA:369837
Unilateral Polymicrogyria
Abnormal posturing, Infantile sensorineural hearing impairment ORPHA:268943
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... 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

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
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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