Gene: Zbtb12 MGI:88133

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Gene Summary

Name:
zinc finger and BTB domain containing 12
Synonyms:
Bat-9,  Bat9

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Zbtb12em1(IMPC)J HOM Early adult 8.79×10-07
increased startle reflex Zbtb12em1(IMPC)J HOM   Early adult 3.24×10-06
hypoactivity Zbtb12em1(IMPC)J HOM Early adult 3.48×10-05
persistence of hyaloid vascular system Zbtb12em1(IMPC)J HOM Early adult 2.90×10-13
decreased thigmotaxis Zbtb12em1(IMPC)J HOM   Early adult 2.97×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Zbtb12 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 Zbtb12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
ORPHA:280397
Severe Primary Trimethylaminuria
ORPHA:468726
Dystonia 11, Myoclonic
OMIM:159900
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
ORPHA:412066
Obsessive-Compulsive Disorder
OMIM:164230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
ORPHA:401901
Huntington Disease-Like 2
OMIM:606438
Myoclonus-Dystonia Syndrome
ORPHA:36899
Parkinson Disease 6, Autosomal Recessive Early-Onset
OMIM:605909
Epilepsy, Progressive Myoclonic, 12
OMIM:619191
Spinocerebellar Ataxia 12
OMIM:604326
Chorea, Benign Hereditary
OMIM:118700
Pandas
ORPHA:66624
Stiff Person Spectrum Disorder
ORPHA:3198
Parkinson Disease 7, Autosomal Recessive Early-Onset
OMIM:606324
Gm2 Gangliosidosis, Ab Variant
ORPHA:309246
Dystonia 26, Myoclonic
OMIM:616398
Reese Retinal Dysplasia
OMIM:266400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
ORPHA:231736
Tay-Sachs Disease
OMIM:272800
Stiff-Person Syndrome
OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency
OMIM:608643
Gm2-Gangliosidosis, Ab Variant
OMIM:272750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
ORPHA:320406
Optic Nerve Hypoplasia, Bilateral
OMIM:165550
Hyperekplexia 3
OMIM:614618
Developmental And Epileptic Encephalopathy 8
OMIM:300607
Spastic Paraplegia, Optic Atrophy, And Neuropathy
OMIM:609541
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
ORPHA:438216
Tay-Sachs Disease
ORPHA:845
Coloboma, Ocular, Autosomal Dominant
OMIM:120200
Spastic Tetraplegia And Axial Hypotonia, Progressive
OMIM:618598
Hyperekplexia-Epilepsy Syndrome
ORPHA:163985
Hyperekplexia 2
OMIM:614619
Oculopalatocerebral Syndrome
OMIM:257910
Developmental And Epileptic Encephalopathy 68
OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
OMIM:618367
Sandhoff Disease
OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
OMIM:614643
Hyperekplexia 1
OMIM:149400
Neurofibromatosis Type 2
ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine
OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
ORPHA:521426
Norrie Disease
ORPHA:649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
OMIM:221900
Oculo-Palato-Cerebral Syndrome
ORPHA:2714
Asparagine Synthetase Deficiency
OMIM:615574
Gm1 Gangliosidosis Type 1
ORPHA:79255
Microphthalmia, Syndromic 2
OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
ORPHA:438213

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 Zbtb12

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 Zbtb12.

No publications found that use IMPC mice or data for Zbtb12.

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MGI Allele Allele Type Produced
Zbtb12em1(IMPC)J Exon Deletion Mice
Zbtb12tm235648(L1L2_Bact_P) Targeting vectors

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