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Gene: Zdhhc9 MGI:2444393

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger, DHHC domain containing 9
Synonyms:
9530098M12Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Zdhhc9 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.

The table below shows human diseases associated to Zdhhc9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lujan-Fryns Syndrome
Hypotonia, Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the corpus callosum ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type
OMIM:300799

The table below shows human diseases predicted to be associated to Zdhhc9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Hypotonia,... ORPHA:208441
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Axial hypotonia, Fusion of the caudate and putamen, Microcephaly, Cortica... OMIM:614039
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Generalized hypotonia, Primary microcephaly, Ove... OMIM:618010
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Tremor, Dysplastic corpus callosum, Spastic tetrapl... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:618276
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Cerebral atrophy, Progressive spast... ORPHA:309246
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Hypotonia, Leukoencephalopathy,... OMIM:620317
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Dysplastic corpus callosum, Spastic paraplegia, Hypoplasia of the corpus c... OMIM:613162
Mucolipidosis Iv
Progressive neurologic deterioration, Cerebral dysmyelination, Microcephaly, Dysplastic corpus ca... OMIM:252650
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Spasticity, Irritability, H... OMIM:616881
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Resting tremor, Anorexia, Aggressive behavior, Tremor, Abno... ORPHA:3077
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Microcephaly, Spastic tetraplegia, Irritabili... OMIM:617864
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Neonatal hypotonia, Polymicrogyria, Agenesis of corpus ... ORPHA:250972
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Microcephaly, Spasticity, Failure to thrive, Cerebral cortical atrophy OMIM:618201
Lissencephaly Due To Tuba1A Mutation
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... ORPHA:171680
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Hypotonia, Dementia, Hypertonia, General... OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cerebral atrophy,... OMIM:272750
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Abnormal cortical gyration, Infantile axial hypotonia, Oral-pharyngeal dysph... ORPHA:2524
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response, Hypoplasia of the frontal lobes ORPHA:163985
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hypotonia, Hypoplasia of the corpus callosum, Depression OMIM:620114
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Spasticity, Polym... OMIM:614833
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Dysplastic corpus callosum, Obesity, Hypertonia, Secondary microcephaly, Periventricular ... OMIM:619737
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Axial hypotonia, Microcephaly, Dysplastic corpus callosum, Simplified gy... OMIM:620001
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ... OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Hypertonia, Agitation,... OMIM:618056
Asparagine Synthetase Deficiency
Caudate atrophy, Axial hypotonia, Exaggerated startle response, Reduced cerebral white matter vol... OMIM:615574
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi... ORPHA:488627
Developmental And Epileptic Encephalopathy 8
Hypertonia, Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes OMIM:300607
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Dysplastic corpus callosum, Hypotonia, Leukoencephalopathy... OMIM:614924
Stiff Person Spectrum Disorder
Rigidity, Emotional lability, Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration, Rigidity, Cessation of head growth, Hyp... OMIM:617527
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Axial hypotonia, Exaggerated startle response, Microcephal... OMIM:617281
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Axial hypotonia, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosu... OMIM:619179
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hyper... OMIM:618598
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Hypotonia, Secondary microcephaly, Spasticity, Failure to thrive OMIM:619423
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Severe muscular hypotonia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... OMIM:616900
Plaa-Associated Neurodevelopmental Disorder
Cerebral white matter atrophy, Exaggerated startle response, Abnormal cortical gyration, Microcep... ORPHA:521426
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Small for gestational age OMIM:620135
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Hypointensity of cerebral white matter on MRI... ORPHA:845
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Failure to thrive, Hypertonia, Microcephaly OMIM:604273
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Neonatal hypotonia, Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, P... ORPHA:544488
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Axial hypotonia, Tremor, Cerebral cortical atrophy, Dysgyria, Limb ... OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, ... ORPHA:438216
Stiff-Person Syndrome
Rigidity, Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Dystonia, Dysplastic corpus callosum, Hypotonia, Athetosis, Secondary micr... ORPHA:357058
Sandhoff Disease, Infantile Form
Infantile axial hypotonia, Spasticity, Cerebral cortical atrophy, Exaggerated startle response ORPHA:309155
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Axial hypotonia, Microcephaly, Hypertonia, Hypoplasia of the corpus... OMIM:617301
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Hypoplasia of the pyramidal tract, Pachygyria, Hypotonia, Lissencep... OMIM:253800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Hyperekplexia 2
Exaggerated startle response, Hypertonia OMIM:614619
Hyperekplexia 3
Exaggerated startle response, Hypertonia OMIM:614618
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Sandhoff Disease
Spasticity, Progressive psychomotor deterioration, Hypotonia, Exaggerated startle response OMIM:268800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Microcephaly, Irritability, Lateral ventricle dilatation, Hypertoni... OMIM:618367
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Dystonia, Exaggerated startle response, T2 hypointense basal ganglia, D... ORPHA:79255
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria ORPHA:2328
Hyperekplexia 1
Exaggerated startle response, Hypertonia OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Spastic paraplegia OMIM:609541
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity, Hypotonia OMIM:618810
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Progressive spastic paraplegia ORPHA:320406
Cerebrofacioarticular Syndrome
Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corpus callo... ORPHA:314679
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Spasti... OMIM:618569
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Axial hypotonia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Thick corp... OMIM:300967
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Hypotonia, Generalized hypotonia, Failure to thrive, Ag... OMIM:151050
White-Kernohan Syndrome
Dysplastic corpus callosum, Hypotonia, Attention deficit hyperactivity disorder, Obesity OMIM:619426
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi... ORPHA:353281
Zttk Syndrome
Failure to thrive, Dysplastic corpus callosum, Hypotonia, Abnormal cerebral white matter morpholo... OMIM:617140
Lujan-Fryns Syndrome
Hypotonia, Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the corpus callosum ORPHA:776
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Aggressive behavior, Dysplastic corpus callosum, Pseudobulbar paralysis, Generalized hypotonia, H... ORPHA:466791
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... OMIM:618820
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, In... ORPHA:500150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Absent septum pellucidum, Infantile muscular hypotonia, H... ORPHA:438213
Witteveen-Kolk Syndrome
Hyperactivity, Small for gestational age, Microcephaly, Aggressive behavior, Dysplastic corpus ca... OMIM:613406
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microcephaly, Hypotonia, Attention deficit hyperactivity disorder, ... OMIM:619522
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type
OMIM:300799

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 Zdhhc9

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 Zdhhc9.

No publications found that use IMPC mice or data for Zdhhc9.

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MGI Allele Allele Type Produced
Zdhhc9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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