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Gene: Zbtb12 MGI:88133

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Gene Summary

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

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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 startle reflex Zbtb12em1(IMPC)J HOM   Early adult 1.94×10-05
decreased exploration in new environment Zbtb12em1(IMPC)J HOM Early adult 2.33×10-06
decreased locomotor activity Zbtb12em1(IMPC)J HOM Early adult 1.46×10-05
persistence of hyaloid vascular system Zbtb12em1(IMPC)J HOM Early adult 6.71×10-10

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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 Skull Lateral Orientation

10 Images

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Electroretinography 3

Fundus file

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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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
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch... OMIM:608643
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ir... OMIM:617864
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dys... ORPHA:845
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia ORPHA:438216
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia OMIM:268800
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular system, Dysmetria OMIM:620185
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Cognitive impairment OMIM:617527
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Full Nf2-Related Schwannomatosis
Memory impairment, Unsteady gait, Remnants of the hyaloid vascular system ORPHA:637
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Pierson Syndrome
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Neuroocular Syndrome
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Attention deficit hyperact... OMIM:619539
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy, Irritability, Attenti... ORPHA:649
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Broad-based gait, Inability to walk, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder 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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