Gene: Ap5z1 MGI:1924908

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Gene Summary

Name:
adaptor-related protein complex 5, zeta 1 subunit
Synonyms:
C330006K01Rik

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
abnormal head morphology Ap5z1tm1(KOMP)Wtsi HOM   Early adult 9.85×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Ap5z1 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 Ap5z1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 48, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ataxia, Spas... OMIM:613647
Autosomal Recessive Spastic Paraplegia Type 48
Hypoplasia of the corpus callosum, Ataxia, Spastic gait, Hyperintensity of cerebral white matter ... ORPHA:306511

The table below shows human diseases predicted to be associated to Ap5z1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Neurodegeneration, Ataxia, Unsteady gait, Cerebellar atrophy, Morpholo... OMIM:256600
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Morp... OMIM:605259
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Global brain atrophy, Cerebellar atrophy, Morphological abnorma... OMIM:236792
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral my... OMIM:604484
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Corticospinal tract pallor OMIM:600333
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbance, Abnormal cerebra... OMIM:302800
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Abnormal cereb... OMIM:256850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Cerebral atrophy, Neurodegeneration, Ataxia, Bradykinesia, Cerebell... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Periphe... OMIM:614436
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, ... OMIM:603516
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Toe walking, Morphological... ORPHA:83629
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Senile plaques, Abnormal cerebral white matter morpholog... ORPHA:100070
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Dystonia, Gait ataxia, Atrophy/Degeneration involving the caudate nucleus, Basal ga... ORPHA:225154
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Decreased number ... OMIM:208920
Adult Krabbe Disease
Gait disturbance, Ataxia, Abnormal corpus callosum morphology, Morphological abnormality of the c... ORPHA:206448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Gait disturbance, Cerebral cortical atrophy, Neuronal loss in central ner... OMIM:600795
Huntington Disease-Like 3
Dystonia, Frontal cortical atrophy, Ataxia, Unsteady gait, Morphological abnormality of the pyram... OMIM:604802
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Cerebellar atrophy, Morphological abnormality of the pyramidal tract OMIM:608768
Gerstmann-Straussler-Scheinker Syndrome
Abnormal cerebellum morphology, Gait ataxia, Morphological abnormality of the pyramidal tract ORPHA:356
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... OMIM:607341
Amyotrophic Lateral Sclerosis 8
Morphological abnormality of the pyramidal tract, Neuronal loss in central nervous system, Amyotr... OMIM:608627
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Abnormal cerebral white matter morphology, Waddling gait, Axonal degeneration, Decreased nerve co... OMIM:618138
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Ataxia, Hyperintensity of cerebral white matter on MRI, ... ORPHA:204
Dystonia 16
Gait disturbance, Bradykinesia, Laryngeal dystonia, Limb dystonia, Morphological abnormality of t... OMIM:612067
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Spastic gait, Abnormal cerebellum morphology, D... OMIM:312920
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Spinocerebellar Ataxia, X-Linked 4
Morphological abnormality of the pyramidal tract, Ataxia OMIM:301840
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Global brain atrophy, Seni... ORPHA:282166
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Gait disturbance, Abnormal cerebral white matter morphology, Frontotemporal cerebra... ORPHA:275864
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral hypomyelination, ... OMIM:604168
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology OMIM:607225
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Dystonia 9
Dystonia, Episodic ataxia, Morphological abnormality of the pyramidal tract OMIM:601042
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Gliosis, Global brain atrophy, Neuronal loss in... ORPHA:275872
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Microcephaly, Optic atrophy... OMIM:616811
Mitochondrial Dna Depletion Syndrome 18
Falls, Axonal degeneration OMIM:618811
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Lethargy, Morphological abnormality of the pyramidal tract, Decreased ... OMIM:238970
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Degeneration of the lateral corticospinal tracts, Gait ataxia, Spastic ataxia... OMIM:607259
Dihydropyrimidinase Deficiency
Abnormal cerebral white matter morphology, Lethargy, Morphological abnormality of the pyramidal t... OMIM:222748
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Craniofacial dystonia, Abnormality of the bas... OMIM:607483
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Megalencephaly, Difficulty walking, Astrocytosis OMIM:611087
Parkinsonism-Dystonia, Infantile, 1
Morphological abnormality of the pyramidal tract, Limb dystonia, Bradykinesia OMIM:613135
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Peripheral axonal degeneration OMIM:162100
Aicardi-Goutieres Syndrome 1
Dystonia, Cerebral atrophy, Basal ganglia calcification, Leukoencephalopathy, Morphological abnor... OMIM:225750
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Autosomal Dominant Spastic Paraplegia Type 73
Difficulty walking, Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:444099
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Primary microcephaly, Optic ... ORPHA:478029
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Spastic gait OMIM:182600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:603563
Narp Syndrome
Progressive gait ataxia, Ataxia, Cerebral cortical atrophy, Corticospinal tract atrophy, Optic di... ORPHA:644
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb dysmetria, Difficulty walking, Limb ataxia... ORPHA:100989
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Parkinson-Dementia Syndrome
Morphological abnormality of the pyramidal tract OMIM:260540
Autosomal Dominant Spastic Paraplegia Type 37
Difficulty walking, Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:171612
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:600363
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Ataxia OMIM:172500
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Gait disturbance, Ataxia, Abnormal sensory nerve conduction velocity, Axonal degener... ORPHA:88628
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Ataxia, Cerebellar atrophy, Cerebral cortical neurodegeneration, Neuronal ... OMIM:203700
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Spastic gait, Frontotemporal cerebral atrophy ORPHA:171617
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Spastic gait ORPHA:320355
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Pachygyria, Corticospinal tract hypoplasia, Hypoplasia of the corpus... ORPHA:255138
Autosomal Dominant Spastic Paraplegia Type 19
Difficulty walking, Limb ataxia, Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Spastic gait ORPHA:171863
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:182601
Adrenomyeloneuropathy
Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the spinal cord, Cerebral dys... ORPHA:139399
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Global brain atrophy, Gait disturbance, Abnormal dentate nucleus morphology, A... ORPHA:909
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Ataxia, Cerebral calcification, Morphological abnormality of the pyramidal tract, Leuko... OMIM:612199
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Axonal loss, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Astrocytosis, Dystonia, Truncal ataxia, Difficulty walking, Gait disturbance,... ORPHA:309854
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Pachygyria, Pontocerebellar atrophy, Facial palsy, Cerebral edem... ORPHA:258
Autosomal Dominant Spastic Paraplegia Type 12
Difficulty walking, Limb ataxia, Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:100993
Cockayne Syndrome Type 3
Astrocytosis, Dense calcifications in the cerebellar dentate nucleus, Cerebral white matter atrop... ORPHA:90324
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Abnormality of the medulla oblongata, Ataxia, Morphol... OMIM:601992
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Abnormality of the medulla oblongata, Morphological abnormality of the pyramidal tract, A... OMIM:302900
Friedreich Ataxia And Congenital Glaucoma
Morphological abnormality of the pyramidal tract, Abnormality of the medulla oblongata, Decreased... OMIM:229310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Polymicrogyria, Hypopl... OMIM:253800
Kanzaki Disease
Peripheral axonal neuropathy, White mater abnormalities in the posterior periventricular region, ... OMIM:609242
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia, Gait disturbance, Micr... ORPHA:819
Spastic Paraplegia 48, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ataxia, Spas... OMIM:613647
Autosomal Recessive Spastic Paraplegia Type 48
Hypoplasia of the corpus callosum, Ataxia, Spastic gait, Hyperintensity of cerebral white matter ... ORPHA:306511
Williams Syndrome
Atrophy/Degeneration involving the corticospinal tracts, Gait disturbance, Ataxia, Cerebral corti... ORPHA:904

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 Ap5z1

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 Ap5z1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five. Neurobiology of Disease (March 2019) Ap5z1tm1(KOMP)Wtsi 30930081

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MGI Allele Allele Type Produced
Ap5z1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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