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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Abnormal cerebellum morphology, Optic atrophy, ... OMIM:312920
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration, Steppage gait, Tip-toe gait, Axonal degenera... OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Abnormal pyramidal tract morphology, Cerebral atrophy, Tip-toe gai... ORPHA:83629
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Gerstmann-Straussler-Scheinker Syndrome
Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Gait ataxia ORPHA:356
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance OMIM:616155
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal pyramidal tract morphol... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Gait ataxia, Astrocytosis, Choreoathetosis, Gait disturbance, Atrophy/Dege... ORPHA:225154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Gait disturbance, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... OMIM:615490
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... ORPHA:275872
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Waddling gait, Spastic ataxia, Degeneration of the lateral corticospinal trac... OMIM:607259
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system ORPHA:204
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Axonal degeneration, Cerebral atrophy, Peripheral hypomye... OMIM:604168
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls OMIM:618811
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Astrocytosis, Central nervous system degeneration, Gait ataxia,... ORPHA:282166
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia ORPHA:90103
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Ataxia, Degeneration of the lateral corti... OMIM:604360
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Gait disturbance, Astrocytosis ORPHA:275864
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Difficulty walking, Degeneration of the lateral corticospinal tracts ORPHA:444099
Spastic Paraplegia 8, Autosomal Dominant
Spastic gait, Degeneration of the lateral corticospinal tracts OMIM:603563
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb ataxia, Difficulty walking, Limb dysmetria... ORPHA:100989
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Degeneration of the lateral corticospinal tracts OMIM:600363
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Spastic Paraplegia 3, Autosomal Dominant
Spastic gait, Degeneration of the lateral corticospinal tracts OMIM:182600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Narp Syndrome
Optic disc pallor, Ataxia, Progressive gait ataxia, Corticospinal tract atrophy, Cerebral cortica... ORPHA:644
Autosomal Dominant Spastic Paraplegia Type 37
Spastic gait, Difficulty walking, Degeneration of the lateral corticospinal tracts ORPHA:171612
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Defective DNA repair after ... OMIM:278800
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Axonal degeneration OMIM:604320
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Autosomal Dominant Spastic Paraplegia Type 19
Difficulty walking, Spastic gait, Limb ataxia, Degeneration of the lateral corticospinal tracts ORPHA:100999
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy OMIM:616811
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:320355
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai... ORPHA:478029
Spastic Paraplegia 4, Autosomal Dominant
Spastic gait, Degeneration of the lateral corticospinal tracts OMIM:182601
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Axonal degeneration, Gait ataxia, Gait disturbance, Abnormal peripheral nerve morphology ... ORPHA:88628
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Autosomal Dominant Spastic Paraplegia Type 42
Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:171863
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c... ORPHA:100070
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Spastic gait, Degeneration of the lateral corticospinal tracts ORPHA:171617
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Axonal loss OMIM:300857
Supranuclear Palsy, Progressive, 1
Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Gait imbalance, ... OMIM:601104
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Ataxia ORPHA:255138
Autosomal Dominant Spastic Paraplegia Type 12
Difficulty walking, Spastic gait, Limb ataxia, Degeneration of the lateral corticospinal tracts ORPHA:100993
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... ORPHA:139399
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal cerebellar peduncle morphology, Ataxia, Optic neu... ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, ... OMIM:203700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Facial palsy, Astrocytosis ORPHA:258
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the pyramidal tract, Optic atrophy, Cerebellar hypoplasia, Agenesis of corpus callo... OMIM:253800
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Unsteady gait, Astrocytosis, Brain atrophy, Diff... ORPHA:90324
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ataxia 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, Axonal degeneration, Cerebral atrophy OMIM:609242
Spastic Paraplegia 48, Autosomal Recessive
Broad-based gait, Ataxia, Dysmetria, Tip-toe gait, Spastic gait OMIM:613647
Williams Syndrome
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Cryptorchidism, Dysmetria, Chiar... ORPHA:904
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Ataxia, Spastic gait 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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