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Gene: Pgap3 MGI:2444461

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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:
post-GPI attachment to proteins 3
Synonyms:
CAB2,  D430035D22Rik,  Perld1

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 Pgap3 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 Pgap3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Involuntary movements, Microcephaly OMIM:615716
Hyperphosphatasia-Intellectual Disability Syndrome
Growth delay, Oculomotor apraxia, Ataxia, Myoclonus ORPHA:247262

The table below shows human diseases predicted to be associated to Pgap3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Secondary mi... OMIM:606777
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto... ORPHA:71277
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le... OMIM:247800
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Cernunnos-Xlf Deficiency
Autoimmunity, Microcephaly, Thrombocytopenia, Decreased circulating antibody level, Growth delay,... ORPHA:169079
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Porphyria, Acute Hepatic
Hemolytic anemia, Respiratory paralysis, Paralysis OMIM:612740
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Acute Peripheral Arterial Occlusion
Leukocytosis, Paralysis ORPHA:90064
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ... ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Horner Syndrome, Congenital
Paralysis OMIM:143000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Myasthenic Syndrome, Congenital, 16
Anti-acetylcholine receptor antibody positivity, Periodic paralysis OMIM:614198
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dystonia OMIM:300857
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Variegate Porphyria
Paralysis OMIM:176200
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Splenomegaly, Decreased circulating IgG level, Partial ab... OMIM:240500
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Growth delay,... OMIM:616005
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 ratio, Autoimmune throm... ORPHA:572
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Impaired T cell function, Pure red cell aplasia, Autoimmune ... OMIM:613179
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE le... ORPHA:98813
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Microcephaly, Postnatal growth retardation, Increased circulating IgE level, Delay... OMIM:618985
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Japanese Encephalitis
Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Ch... ORPHA:79139
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Autoimmunity, Cerebral pals... ORPHA:760
Dyskeratosis Congenita, Autosomal Recessive 5
Microcephaly, Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bon... OMIM:615190
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Periodic paralysis ORPHA:757
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor coordination, ... ORPHA:99947
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis OMIM:616287
Roifman Syndrome
Short stature, Eosinophilia, Microcephaly, Postnatal growth retardation, Decreased circulating an... ORPHA:353298
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Microcephaly ORPHA:2375
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia, Paralysis ORPHA:449285
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Paralysis ORPHA:83601
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec... OMIM:619774
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Leukocytosis, Increased circulating IgG level,... ORPHA:297
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Schimke Immuno-Osseous Dysplasia
Short stature, Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Thrombocyt... ORPHA:1830
Rift Valley Fever
Paralysis, Paraparesis, Anemia, Increased circulating IgG level, Increased circulating IgM level,... ORPHA:319251
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paralysis OMIM:612300
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... ORPHA:3261
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Immunodeficiency 22
Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating I... OMIM:615758
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Impaired T cell function, Ataxia, Tremor, Splenomegaly OMIM:201100
Glioblastoma
Paralysis ORPHA:360
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Voca... ORPHA:64744
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Microcephaly, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Charcot-Marie-Tooth Disease Type 4A
Poor fine motor coordination, Vocal cord paresis, Frequent falls, Poor gross motor coordination ORPHA:99948
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Laryngeal Abductor Paralysis
Vocal cord paralysis, Microcephaly OMIM:150260
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Spasticity, Secondary microcephaly, Myoclonus, Dystonia, Primary microcephaly ORPHA:500144
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia ORPHA:98897
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Periodic hypoka... ORPHA:37553
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Inhalational Botulism
Paralysis ORPHA:254504
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, T lymphocytopenia, Co... ORPHA:83471
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Spasticity, Increased circulatin... OMIM:618213
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis ORPHA:94080
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Gait ataxia OMIM:614895
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Short stature, Periodic paralysis, Microcephaly OMIM:170390
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee clonus, Trunc... OMIM:211530
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis ORPHA:397744
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Paralysis, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Spastic parap... ORPHA:2072
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Gitelman Syndrome
Growth delay, Ataxia, Paralysis, Delayed puberty OMIM:263800
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Frequent falls ORPHA:101097
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Periodic hypokalemic paresis, An... OMIM:259730
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Microcephaly, Postnatal growth retardation, Decreas... OMIM:242840
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Short stature, Ataxia, Microcephaly, Vocal cord paralysis, Growth delay, H... OMIM:617799
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Distal Renal Tubular Acidosis
Growth delay, Hemolytic anemia, Short stature, Paralysis ORPHA:18
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis OMIM:615490
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Glossopharyngeal Neuralgia
Vocal cord paralysis, Autoimmunity ORPHA:221098
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Decreased circulating antibody level, Decre... OMIM:618131
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Short stature OMIM:606071
Gitelman Syndrome
Paralysis, Iron deficiency anemia, Hashimoto thyroiditis, Delayed puberty ORPHA:358
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:261
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis ORPHA:276621
Tyrosinemia, Type I
Growth delay, Splenomegaly, Anemia, Periodic paralysis OMIM:276700
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Poor fine motor coordination, Vocal cord paralysis ORPHA:99956
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
African Trypanosomiasis
Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Splenomegaly, Hepatosp... ORPHA:3385
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis OMIM:601152
Velocardiofacial Syndrome
Short stature, Impaired T cell function, Microcephaly OMIM:192430
Charcot-Marie-Tooth Disease Type 4C
Gait ataxia, Tongue fasciculations, Head tremor, Facial paralysis, Vocal cord paresis, Frequent f... ORPHA:99949
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis ORPHA:29072
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Severe postnatal growth retardation, Abnormality of T cell physiology ORPHA:2237
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Babinski sign, Vocal cord paralysis, Gait ataxia ORPHA:268882
Van Esch-O'Driscoll Syndrome
Short stature, Microcephaly, Unilateral vocal cord paralysis, Growth delay, Intrauterine growth r... OMIM:301030
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis, Delayed puberty ORPHA:91347
Progeroid Short Stature With Pigmented Nevi
Short stature, Impaired T cell function, Delayed puberty OMIM:176690
Pineoblastoma
Paralysis ORPHA:251909
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Microcephaly, Vocal cord paralysis, Hepatosplenomega... OMIM:619488
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis ORPHA:600
22Q11.2 Deletion Syndrome
Short stature, Impaired T cell function, Autoimmunity, Microcephaly, Splenomegaly, Hypoplasia of ... ORPHA:567
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hypertonia, Spasticity ORPHA:581
Feingold Syndrome 1
Accessory spleen, Microcephaly, Asplenia, Vocal cord paralysis, Polysplenia OMIM:164280
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia OMIM:181000
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Intrauterine growth retardation, Unilateral vocal cord paralysis ORPHA:324540
Codas Syndrome
Vocal cord paresis, Short stature OMIM:600373
Schinzel-Giedion Syndrome
Myeloid leukemia, Hypertonia, Vocal cord paralysis, Spasticity ORPHA:798
Esophageal Atresia
Growth delay, Vocal cord paresis, Hypertonia ORPHA:1199
Digeorge Syndrome
Short stature, Impaired T cell function, Microcephaly, Thrombocytopenia, Splenomegaly, Hemiparesi... OMIM:188400
Williams-Beuren Syndrome
Incoordination, Short stature, Poor coordination, Vocal cord paralysis, Intrauterine growth retar... OMIM:194050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Involuntary movements, Microcephaly OMIM:615716
Hyperphosphatasia-Intellectual Disability Syndrome
Growth delay, Oculomotor apraxia, Ataxia, Myoclonus ORPHA:247262

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 Pgap3

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 Pgap3.

No publications found that use IMPC mice or data for Pgap3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pgap3tm355108(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pgap3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pgap3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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