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Gene: Btbd10 MGI:1916065

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Gene Summary

Name:
BTB (POZ) domain containing 10
Synonyms:
1110056N09Rik,  Gmrp1

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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
increased vertical activity Btbd10em1(IMPC)Hmgu HOM Early adult 5.04×10-05
abnormal auditory brainstem response Btbd10em1(IMPC)Hmgu HOM   Early adult 1.22×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Btbd10 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 Btbd10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Schizophrenia 15
Hyperactivity OMIM:613950
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Heari... OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... OMIM:601596
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Ataxia... ORPHA:206443
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia OMIM:619260
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Adult Krabbe Disease
EEG abnormality, Gait disturbance, Ataxia, Prolonged brainstem auditory evoked potentials, Broad-... ORPHA:206448
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Sp... ORPHA:99027
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Sensorineural hearing impairment, Inability to walk, Absent brainstem auditory respo... ORPHA:101085
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Leukodystrophy, Hypomyelinating, 13
Ataxia, Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Gait distur... OMIM:216400
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears ORPHA:401973
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Dec... OMIM:133540

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 Btbd10

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 Btbd10.

No publications found that use IMPC mice or data for Btbd10.

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MGI Allele Allele Type Produced
Btbd10em1(IMPC)Hmgu Exon Deletion Mice
Btbd10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Btbd10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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