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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, 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
Intellectual Developmental Disorder, X-Linked 63
Microcephaly, Anxiety, Hypotonia OMIM:300387
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Generalized hypotonia, Anxiety, Tremor, Writer's cramp, Hyp... OMIM:159900
Huntington Disease-Like 2
Apathy, Action tremor, Depression, Anxiety, Rigidity, Weight loss, Dystonia, Irritability, Dementia OMIM:606438
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Anxiety, Tremor, Thin corpus callosum, Dystonia, Axial hypotonia OMIM:619651
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Basal ganglia calcification, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia OMIM:615483
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Depression, Anxiety, Rigidity, Inappropriate behavior, Memory impairment, T... ORPHA:401901
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cerebral atrophy, Exaggerated startle response, Cognitive... ORPHA:309246
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia ORPHA:36899
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Spastic paraplegia, Spastic gait, ... OMIM:613162
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized hypotonia, Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior OMIM:618010
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Depression, Anxiety, Rigidity, Dystonia, Dementia OMIM:605909
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Spasticity, Hypotonia, Dystonia OMIM:618276
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Diffuse cerebral atrophy, Motor deter... ORPHA:412066
Huntington Disease-Like 1
Depression, Anxiety, Rigidity, Basal ganglia gliosis, Aggressive behavior, Dementia OMIM:603218
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Generalized hypotonia, Progres... OMIM:252650
Tay-Sachs Disease
Hypertonia, Apathy, Exaggerated startle response, Generalized hypotonia, Psychomotor deterioratio... OMIM:272800
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Hypoplasia o... OMIM:604213
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Apathy, Cerebral atrophy, Exaggerated startle response, Generalized hypotonia, Hypoto... OMIM:272750
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Polymicrogyria With Optic Nerve Hypoplasia
Neonatal hypotonia, Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus ... ORPHA:250972
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Leukoencephalopathy, Dysplastic corpus callosum, Neonatal hypotonia, Hypoplasi... OMIM:614924
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Cerebral cortical atrophy, Exaggerated startle response, Microcephaly, Spasticity OMIM:618201
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Resting tremor, Abnormal aggressive, impulsive or violent... ORPHA:3077
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Perry Syndrome
Apathy, Frontotemporal dementia, Depression, Anxiety, Rigidity, Inappropriate behavior, Tremor, S... OMIM:168605
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia OMIM:616398
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Emotional lability ORPHA:3198
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response, Microcephaly, Cortical dysplasia, Hypoplasia of ... OMIM:615574
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Microcephaly, Polymicrogyria, Lissencephaly, S... OMIM:614833
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Memory impairment, Tremor, Obesity, Secondary microcephal... OMIM:619737
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response, Hypoplasia of the frontal lobes ORPHA:163985
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Resting tremor, Anxiety, Rigidity, Postural tremor OMIM:606324
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Upper limb hypertonia, Abnormal cortical gyration, Hypoplasia of the ... ORPHA:2524
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... ORPHA:488627
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Appendicular spasticity, Simplified ... OMIM:620001
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Irritability, Oculogyric crisis, Limb h... OMIM:608643
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity OMIM:184850
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Dysplastic corpus callosum, Spasticity, Hypotonia, Secondary microcephaly OMIM:619423
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Exaggerated startle response, Spastic tetraparesis, Lower limb spasticity, Axial hypo... OMIM:618598
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Severe muscular hypotonia, Hyp... OMIM:616900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Hypertonia OMIM:604273
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Exaggerated startle response, Spasticity OMIM:618367
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, S... OMIM:619179
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Hypertonia, Cerebral cortical atrophy, Exaggerated startle response, Cognitive... OMIM:617527
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Athetosis, Thick cerebral cortex, Primary microcephaly, Spasticity, H... ORPHA:357058
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Severe muscular hypotonia, Exaggerated startle response, Microcephaly, Anxiety, Facial hypotonia,... ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Leukoencephalopathy, Exaggerated startle response, Microcephaly, Limb hyperton... ORPHA:521426
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Depression, Decerebrate rigidity, Generalized h... ORPHA:845
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Neonatal hypotonia, Dysplastic corpus callosum, Self-injurious behavior, L... ORPHA:544488
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Generalized hypotonia, Polymicrogyria, Type II lissencephaly, Agyri... OMIM:253800
Hyperekplexia 2
Hypertonia, Exaggerated startle response OMIM:614619
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Exaggerated startle response, Microcephaly, Hypoplasia of the corpus callosum, Axial ... OMIM:617301
Kapur-Toriello Syndrome
Failure to thrive, Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity, Hypotonia OMIM:618810
Hyperekplexia 1
Hypertonia, Exaggerated startle response OMIM:149400
Sandhoff Disease
Spasticity, Exaggerated startle response, Progressive psychomotor deterioration, Hypotonia OMIM:268800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, ... OMIM:619103
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Head-banging, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Spasti... OMIM:618569
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Infantile muscular hypotonia, Self-injurious behavior, Microcephaly, ... ORPHA:314679
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Thick corpus callosum, Neonatal hypotonia, Dysplastic corpus callosum, Impulsivity... OMIM:300967
Gm1 Gangliosidosis Type 1
Infantile muscular hypotonia, Exaggerated startle response, Decerebrate rigidity, T2 hypointense ... ORPHA:79255
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Exaggerated startle response ORPHA:320406
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
White-Kernohan Syndrome
Obesity, Dysplastic corpus callosum, Anxiety, Hypotonia OMIM:619426
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Slender build, Failure to thrive, Dysplastic corpus callosum, Intention tremor, Generalized hypot... ORPHA:466791
Zttk Syndrome
Failure to thrive, Neonatal hypotonia, Dysplastic corpus callosum, Hypoplasia of the corpus callo... OMIM:617140
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Infantile muscular hypotonia, Hypoplasia of the corpus callosum, Poly... ORPHA:500150
Witteveen-Kolk Syndrome
Conspicuously happy disposition, Dysplastic corpus callosum, Small for gestational age, Microceph... OMIM:613406
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Polymicrogyria, Secondary microcephaly, ... OMIM:618820
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Infantile muscular hypotonia, Exaggerated startle response, Absent septum pellucidum, Hypoplasia ... ORPHA:438213
Lujan-Fryns Syndrome
Hypotonia, Aplasia/Hypoplasia of the corpus callosum ORPHA:776
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Microcephaly, Exaggerated startle response, Hypotonia 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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