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Gene: Ap5z1 MGI:1924908

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Gene Summary

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

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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
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
Broad-based gait, Spastic gait, Ataxia, Dysmetria OMIM:613647
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Spastic gait, Ataxia ORPHA:306511

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Ataxia, Gliosis, Decreased nerve conduction velocity, Ce... OMIM:256600
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Opt... OMIM:605259
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Decreased nu... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
L-2-Hydroxyglutaric Aciduria
Gliosis, Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, Optic atrophy... OMIM:236792
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Sensory axonal neuropathy, Morphological abnormality of the pyram... OMIM:256850
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Spastic Paraplegia 2, X-Linked
Abnormal cerebellum morphology, Loss of ambulation, Dysmetria, Degeneration of the lateral cortic... OMIM:312920
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... OMIM:615157
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Tip-toe gait, Morphological abnormality of the pyramidal tract, Gait disturbanc... ORPHA:83629
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... ORPHA:100070
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Morph... OMIM:608627
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... OMIM:208920
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Morphological abnormality of the pyramidal tract, Cerebellar atrophy OMIM:608768
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Dysdi... OMIM:603516
Gerstmann-Straussler-Scheinker Syndrome
Abnormal cerebellum morphology, Gait ataxia, Morphological abnormality of the pyramidal tract ORPHA:356
Adult Krabbe Disease
Broad-based gait, Abnormal pons morphology, Ataxia, Morphological abnormality of the corticospina... ORPHA:206448
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Loss of ambulation, Atrophy/Degeneration involving the caudate nucleus, Basal ganglia gli... ORPHA:225154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Huntington Disease-Like 3
Ataxia, Frontal cortical atrophy, Morphological abnormality of the pyramidal tract, Unsteady gait... OMIM:604802
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
Spinocerebellar Ataxia, X-Linked 4
Ataxia, Morphological abnormality of the pyramidal tract OMIM:301840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology OMIM:607225
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Ataxia, Cerebral atrophy, Astrocytosis ORPHA:204
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve ... OMIM:604168
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Dystonia 9
Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodic ataxia OMIM:601042
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Frontotemporal cerebral atrophy, Astrocytosis ORPHA:275864
Mitochondrial Dna Depletion Syndrome 18
Falls, Axonal degeneration OMIM:618811
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Neuronal loss in central nervous system, Progressive cerebellar ataxia, Central n... ORPHA:282166
Frontotemporal Dementia With Motor Neuron Disease
Gliosis, Progressive cerebellar ataxia, Abnormal mitochondrial morphology, Degeneration of the la... ORPHA:275872
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Dysmetria, Dysdiadochokinesis, Degeneration of the lateral corticospin... OMIM:607259
Dystonia 16
Gait disturbance, Morphological abnormality of the pyramidal tract OMIM:612067
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking ORPHA:444099
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Degeneration of the lateral corticospinal tracts... OMIM:604360
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... OMIM:604320
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:603563
Aicardi-Goutieres Syndrome 1
Cerebellar calcifications, Inability to walk, Cerebral atrophy, Morphological abnormality of the ... OMIM:225750
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Autosomal Dominant Spastic Paraplegia Type 8
Limb ataxia, Degeneration of the lateral corticospinal tracts, Limb dysmetria, Difficulty walking... ORPHA:100989
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Inability to walk, Astrocytosis OMIM:611087
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Morphological abnormality of the pyramidal tract, Cerebral c... OMIM:238970
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking ORPHA:171612
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... OMIM:608720
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy, Global brain atrophy OMIM:616811
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Axonal degeneration, Gait disturbance, Gait ataxia, Abnormal sensory nerve conduction vel... ORPHA:88628
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:600363
Parkinson-Dementia Syndrome
Morphological abnormality of the pyramidal tract OMIM:260540
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brai... ORPHA:478029
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Neuronal loss in central nervous system, Gliosis, Ataxia, Astrocytosis, Cerebellar atrophy, Cereb... OMIM:203700
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Inability to walk, Morphological abnormality of the pyramidal tract, Gait ataxia OMIM:607483
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Astrocytosis OMIM:172500
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:182600
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Spastic gait ORPHA:320355
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Optic disc pallor, Progressive gait ataxia, Corticospinal trac... ORPHA:644
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking, Limb ataxia ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Spastic gait, Frontotemporal cerebral atrophy ORPHA:171617
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Spastic gait ORPHA:171863
Dihydropyrimidinase Deficiency
Morphological abnormality of the pyramidal tract OMIM:222748
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:182601
De Sanctis-Cacchione Syndrome
Ataxia, Cerebral atrophy, Axonal degeneration, Olivopontocerebellar atrophy, Optic atrophy, Chore... OMIM:278800
Parkinsonism-Dystonia 1, Infantile-Onset
Morphological abnormality of the pyramidal tract OMIM:613135
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Axonal loss OMIM:300857
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Gliosis, Cereb... OMIM:601104
Adrenomyeloneuropathy
Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Peripheral axonal d... ORPHA:139399
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal cerebellum morphology, Ataxia, Gliosis, Decreased nerve conduction vel... ORPHA:909
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking, Limb ataxia ORPHA:100993
Pyruvate Dehydrogenase E1-Beta Deficiency
Cerebellar hypoplasia, Ataxia, Corticospinal tract hypoplasia, Agenesis of corpus callosum ORPHA:255138
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Ataxia, Morphological abnormality of the pyramidal tract OMIM:612199
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Inability to walk, Astrocytosis, Facial palsy ORPHA:258
Cockayne Syndrome Type 3
Brain atrophy, Peripheral axonal neuropathy, Astrocytosis, Optic disc pallor, Dense calcification... ORPHA:90324
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormality of peripheral nerve conduction, Ataxia, Morphological abnormality of the pyramidal tr... OMIM:302900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Truncal ataxia, Astrocytosis, Gait disturbance, Difficulty walking ORPHA:309854
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Ataxia, Morphological abnormality of the pyramidal tract OMIM:601992
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials, Ataxia, Morphological abnormality of the pyrami... OMIM:229310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar hypoplasia, Optic atrophy, Cerebellar cyst, Agenesis of corpus callosum, Hypoplasia of... OMIM:253800
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Smith-Magenis Syndrome
Gait disturbance, Corticospinal tract hypoplasia ORPHA:819
Spastic Paraplegia 48, Autosomal Recessive
Broad-based gait, Spastic gait, Ataxia, Dysmetria OMIM:613647
Williams Syndrome
Gait imbalance, Ataxia, Cerebral cortical atrophy, Dysmetria, Atrophy/Degeneration involving the ... ORPHA:904
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Spastic gait, Ataxia ORPHA:306511

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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