Gene Summary

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

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
persistence of hyaloid vascular system Zbtb12em1(IMPC)J HOM Early adult 1.58×10-13
decreased exploration in new environment Zbtb12em1(IMPC)J HOM Early adult 1.19×10-06
decreased locomotor activity Zbtb12em1(IMPC)J HOM Early adult 1.02×10-05
increased startle reflex Zbtb12em1(IMPC)J HOM   Early adult 1.56×10-05

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Inability to walk, Exaggerated startle response OMIM:609541
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Irritability, Oculogyric crisis, Atheto... OMIM:608643
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response ORPHA:320406
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma, Chorioretinal ... OMIM:120200
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Stiff-Person Syndrome
Agoraphobia, Anxiety, Exaggerated startle response, Opisthotonus OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Tay-Sachs Disease
Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Anxiety, Memory i... ORPHA:845
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sandhoff Disease
Ataxia, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Hyaloid vascu... ORPHA:91495
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Exaggerated startle response, Retinal dysplasia OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response, Cognitive impairment OMIM:617527
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Unsteady gait, Memory impairment ORPHA:637
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Pierson Syndrome
Retinal hemorrhage, Remnants of the hyaloid vascular system, Retinal detachment, Posterior lentic... OMIM:609049
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Norrie Disease
Remnants of the hyaloid vascular system, Self-injurious behavior, Retinal detachment, Anxiety, Op... ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Iris coloboma, Chorioretinal coloboma OMIM:157170
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Anxiety, Iris coloboma, Lens coloboma OMIM:619539
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Optic disc pallor, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response 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 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
Zbtb12tm235648(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zbtb12em1(IMPC)J Exon Deletion Mice

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