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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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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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, Tip-toe gait, Dysmetria, Ataxia, Spastic gait OMIM:613647
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Broad-based 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
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyrami... OMIM:236792
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal tract ... OMIM:256600
Spinocerebellar Ataxia 13
Optic atrophy, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Gait ataxia, Abnormal pyramidal t... OMIM:605259
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Gait disturbance, Gl... OMIM:604484
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Lateral ventricle dilatation, Abnormal cerebellum morphology, Motor ax... OMIM:256850
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysmetria, Axonal degeneration, Decreased n... OMIM:302800
Spastic Paraplegia 2, X-Linked
Optic atrophy, Abnormal cerebellum morphology, Dysmetria, Degeneration of the lateral corticospin... OMIM:312920
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration/regeneration, Axonal degeneration, Peripheral axonal degenerati... OMIM:614436
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, Axonal degeneration, Decreased num... OMIM:214400
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Abnormal cerebellum morphology, Abnormal pyramidal tract morphology ORPHA:356
Spinocerebellar Ataxia 8
Cerebellar atrophy, Abnormal pyramidal tract morphology, Progressive cerebellar ataxia OMIM:608768
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Neuronal loss in central nervous system, Abnormal pyramidal tract morphology,... OMIM:608627
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Limb ataxia, Gait ataxia, Axonal degeneration, Loss of ambulation, Peripheral... OMIM:208920
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... OMIM:602433
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Cerebral atrophy, Abnormal astrocyte morphology, Gait disturbance, Abnormal pyramid... ORPHA:83629
Spinocerebellar Ataxia 10
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormal pyramidal tract morphology, Dys... OMIM:603516
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner... ORPHA:98856
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Broad-based gait, Peripheral demyelination, Abnormal corti... ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial nerve morphology, Axonal ... OMIM:601596
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Astrocytosis, Gait ataxia, Loss of ambulation, Gait disturbance, Ataxia, Atrophy/D... ORPHA:225154
Huntington Disease-Like 3
Caudate atrophy, Frontal cortical atrophy, Abnormal pyramidal tract morphology, Ataxia, Unsteady ... OMIM:604802
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology OMIM:607225
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Gait disturbance, Neuronal loss in central nervous system OMIM:600795
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:615490
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Ataxia ORPHA:204
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Dysmetria, Degeneratio... OMIM:607259
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal upper motor neuron morphology, Degeneration of the lateral cortico... ORPHA:275872
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Dystonia 9
Abnormal pyramidal tract morphology, Choreoathetosis, Episodic ataxia OMIM:601042
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral demyelination, Axonal degeneration, Peripheral hypomyelination, Peri... OMIM:604168
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Global brain atrophy, Amyloidosis of peripheral nerves, Astr... ORPHA:282166
Mitochondrial Dna Depletion Syndrome 18
Falls, Axonal degeneration OMIM:618811
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance ORPHA:275864
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Dystonia 16
Gait disturbance, Abnormal pyramidal tract morphology OMIM:612067
Aicardi-Goutieres Syndrome 1
Cerebellar calcifications, Abnormal pyramidal tract morphology, Cerebral atrophy, Inability to walk OMIM:225750
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Difficulty walking, Spastic gait ORPHA:444099
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Optic neuropathy OMIM:616811
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Tip-toe gait, Agenesis of corpus callosum, Degeneration of the lateral... OMIM:604360
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... ORPHA:478029
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration OMIM:604320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Autosomal Dominant Spastic Paraplegia Type 8
Difficulty walking, Limb ataxia, Limb dysmetria, Degeneration of the lateral corticospinal tracts... ORPHA:100989
De Sanctis-Cacchione Syndrome
Optic atrophy, Global brain atrophy, Cerebral atrophy, Olivopontocerebellar atrophy, Axonal degen... OMIM:278800
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Astrocytosis, Inability to walk OMIM:611087
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Difficulty walking, Spastic gait ORPHA:171612
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:600363
Narp Syndrome
Cerebral cortical atrophy, Progressive gait ataxia, Ataxia, Optic disc pallor, Corticospinal trac... ORPHA:644
Basal Ganglia Disease, Biotin-Thiamine Responsive
Inability to walk, Gait ataxia, Facial palsy, Abnormal pyramidal tract morphology OMIM:607483
Parkinson-Dementia Syndrome
Abnormal pyramidal tract morphology OMIM:260540
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
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Difficulty walking, Spastic gait, Limb ataxia ORPHA:100999
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Axonal degeneration, Gait disturbance, Abnormal peripheral nerve morphology by anato... ORPHA:88628
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
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
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait OMIM:182601
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal tract morphology OMIM:613135
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Astrocytosis, Gait imbalance, Gliosis, Neuronal loss in centra... OMIM:601104
Dihydropyrimidinase Deficiency
Abnormal pyramidal tract morphology OMIM:222748
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Abnormal cerebellum morphology, Axonal d... ORPHA:909
Pyruvate Dehydrogenase E1-Beta Deficiency
Cerebellar hypoplasia, Corticospinal tract hypoplasia, Ataxia, Agenesis of corpus callosum ORPHA:255138
Adrenomyeloneuropathy
Axonal degeneration, Peripheral axonal degeneration, Atrophy of the spinal cord, Spastic gait, At... ORPHA:139399
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Difficulty walking, Spastic gait, Limb ataxia ORPHA:100993
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral atrophy, Cerebral cortical neurodegeneration, Astrocytosis, Gliosis,... OMIM:203700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Facial palsy, Pontocerebellar atrophy ORPHA:258
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Abnormal pyramidal tract morphology, Ataxia OMIM:612199
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Difficulty walking, Astrocytosis, Peripheral axonal neu... ORPHA:90324
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Abnormal medulla oblongata morphology, Abnormal pyramida... OMIM:601992
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of... OMIM:253800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Difficulty walking, Astrocytosis, Gait disturbance, Truncal ataxia, Dysdiadochokinesis ORPHA:309854
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Gait disturbance ORPHA:819
Kanzaki Disease
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration OMIM:609242
Spastic Paraplegia 48, Autosomal Recessive
Broad-based gait, Tip-toe gait, Dysmetria, Ataxia, Spastic gait OMIM:613647
Williams Syndrome
Cerebral cortical atrophy, Chiari malformation, Gait imbalance, Dysmetria, Gait disturbance, Atax... ORPHA:904
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Broad-based 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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