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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
Microcephaly, Involuntary movements, Growth delay OMIM:615716
Hyperphosphatasia-Intellectual Disability Syndrome
Myoclonus, Oculomotor apraxia, Growth delay, Ataxia 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, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ... ORPHA:71277
Glut1 Deficiency Syndrome 1
Spasticity, Secondary microcephaly, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, P... OMIM:606777
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... OMIM:617006
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Reduc... OMIM:601859
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level, Gl... OMIM:247800
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, T lymphocytopenia, Microcephaly, Thrombocytopenia, B lymphocytopenia, ... ORPHA:169079
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Hemolytic anemia OMIM:612740
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni... OMIM:603909
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Spasticity OMIM:607624
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Acute Peripheral Arterial Occlusion
Paralysis, Leukocytosis 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
Lack of T cell function, Increased circulating IgE level, Lymphopenia, Autoimmunity, Anti-thyroid... ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Horner Syndrome, Congenital
Paralysis OMIM:143000
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... OMIM:614470
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Anti-acetylcholine receptor antibody positivity OMIM:614198
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... ORPHA:444463
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis OMIM:300857
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Variegate Porphyria
Paralysis OMIM:176200
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... OMIM:616005
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hemolytic anemia, Hand tremor OMIM:609153
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Paralysis, Leukocytosis, Thrombocytopenia ORPHA:83601
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle... OMIM:272750
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Postnatal growth retardation, Microcephaly, Delayed puberty, Sho... OMIM:618985
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Spasticity, Spastic paraparesis, Cerebral palsy, Systemic lupus erythematosus, Abnormal c... ORPHA:760
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Increased circulating antibody level, ... ORPHA:79139
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Tetraparesis... OMIM:613179
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko... OMIM:615190
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Babinski sign, Vocal cord paralysis, Frequent falls, Poor fine moto... ORPHA:99947
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis OMIM:616287
Pseudohypoaldosteronism Type 2
Short stature, Periodic paralysis, Growth delay ORPHA:757
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Snakebite Envenomation
Respiratory paralysis, Paralysis, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Microcephaly, Vocal cord paralysis ORPHA:2375
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Tick-Borne Encephalitis
Tongue fasciculations, Incoordination, Speech apraxia, Leukopenia, Leukocytosis, Tremor, Hyperkin... ORPHA:297
Machado-Joseph Disease Type 1
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276241
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis ORPHA:43
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Impaired T c... ORPHA:1830
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Thrombocytopenia, Anemia, Increased circulating IgG level, D... ORPHA:319251
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Machado-Joseph Disease Type 3
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276244
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Hemolytic anemia OMIM:612300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport... OMIM:615758
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Tremor, Ataxia, Short stature OMIM:201100
Glioblastoma
Paralysis ORPHA:360
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto... ORPHA:64744
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor gross motor coordination, Frequent falls, Poor fine motor coordination ORPHA:99948
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, In... OMIM:614576
Amyotrophic Lateral Sclerosis
Babinski sign, Spasticity, Paralysis, Fasciculations ORPHA:803
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi... ORPHA:231154
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Growth delay OMIM:242100
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis, Reduced erythrocyte porphobilinogen deaminase activity OMIM:176000
Laryngeal Abductor Paralysis
Microcephaly, Vocal cord paralysis OMIM:150260
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Secondary microcephaly, Myoclonus, Vocal cord paralysis, Primary microcephaly, Dystonia ORPHA:500144
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Andersen-Tawil Syndrome
Growth delay, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Short stature, Perio... ORPHA:37553
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia ORPHA:98897
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Inhalational Botulism
Paralysis ORPHA:254504
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Spasticity, Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell a... OMIM:618213
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Autoimmunity, Decreased proportion of ... ORPHA:83471
Poliomyelitis
Hyperkinetic movements, Paralysis, Paraparesis, Fasciculations ORPHA:2912
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations ORPHA:682
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor ORPHA:94080
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Gait ataxia OMIM:614895
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations OMIM:619574
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Andersen Cardiodysrhythmic Periodic Paralysis
Short stature, Microcephaly, Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Truncal ataxia, Kn... OMIM:211530
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Limb ataxia, Spl... ORPHA:2072
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia ORPHA:2396
Gitelman Syndrome
Ataxia, Paralysis, Delayed puberty, Growth delay OMIM:263800
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Frequent falls ORPHA:101097
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Short sta... OMIM:259730
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Postnatal growth reta... OMIM:242840
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 54
Athetoid cerebral palsy, Hyperkinetic movements, Microcephaly, Lower limb spasticity, Vocal cord ... OMIM:617799
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis OMIM:615490
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Distal Renal Tubular Acidosis
Short stature, Paralysis, Hemolytic anemia, Growth delay ORPHA:18
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia OMIM:203700
Glossopharyngeal Neuralgia
Autoimmunity, Vocal cord paralysis ORPHA:221098
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... OMIM:618131
Hereditary Motor And Sensory Neuropathy, Type Iic
Short stature, Vocal cord paresis OMIM:606071
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Gitelman Syndrome
Hashimoto thyroiditis, Paralysis, Iron deficiency anemia, Delayed puberty ORPHA:358
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
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Tremor ORPHA:276621
Charcot-Marie-Tooth Disease Type 4B2
Poor fine motor coordination, Vocal cord paralysis, Tremor ORPHA:99956
Tyrosinemia, Type I
Anemia, Periodic paralysis, Growth delay, Splenomegaly OMIM:276700
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
African Trypanosomiasis
Involuntary movements, Fasciculations, Abnormal central motor function, Hepatosplenomegaly, Splen... ORPHA:3385
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis OMIM:601152
Velocardiofacial Syndrome
Short stature, Microcephaly, Impaired T cell function OMIM:192430
Charcot-Marie-Tooth Disease Type 4C
Vocal cord paresis, Tongue fasciculations, Facial paralysis, Head tremor, Gait ataxia, Frequent f... ORPHA:99949
Hereditary Pheochromocytoma-Paraganglioma
Vocal cord paralysis, Tremor ORPHA:29072
Arnold-Chiari Malformation Type I
Babinski sign, Gait ataxia, Vocal cord paralysis, Progressive cerebellar ataxia ORPHA:268882
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Severe postnatal growth retardation, Abnormality of T cell physiology ORPHA:2237
Van Esch-O'Driscoll Syndrome
Spasticity, Unilateral vocal cord paralysis, Intrauterine growth retardation, Microcephaly, Short... OMIM:301030
Progeroid Short Stature With Pigmented Nevi
Short stature, Delayed puberty, Impaired T cell function OMIM:176690
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Periodic hypokalemic paresis, Tremor ORPHA:91347
22Q11.2 Deletion Syndrome
Impaired T cell function, Intrauterine growth retardation, Autoimmunity, Splenomegaly, Hypoplasia... ORPHA:567
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis ORPHA:600
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Splenomegaly, Abnormal pyramidal sign, Hypertonia, Ataxia ORPHA:581
Degcags Syndrome
Hepatosplenomegaly, Pancytopenia, Leukopenia, Intrauterine growth retardation, Microcephaly, Abno... OMIM:619488
Pineoblastoma
Paralysis ORPHA:251909
Feingold Syndrome 1
Accessory spleen, Polysplenia, Microcephaly, Vocal cord paralysis, Asplenia OMIM:164280
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Intrauterine growth retardation ORPHA:324540
Codas Syndrome
Short stature, Vocal cord paresis OMIM:600373
Schinzel-Giedion Syndrome
Spasticity, Hypertonia, Vocal cord paralysis, Myeloid leukemia ORPHA:798
Esophageal Atresia
Vocal cord paresis, Growth delay, Hypertonia ORPHA:1199
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Hemiparesis, Hypoplasia of the thymus, Microcephaly, Thro... OMIM:188400
Acrofacial Dysostosis, Cincinnati Type
Laryngeal dystonia, Intrauterine growth retardation, Abnormality of coordination, Myoclonus, Micr... OMIM:616462
Williams-Beuren Syndrome
Incoordination, Intrauterine growth retardation, Vocal cord paralysis, Short stature, Poor coordi... OMIM:194050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Involuntary movements, Growth delay OMIM:615716
Hyperphosphatasia-Intellectual Disability Syndrome
Myoclonus, Oculomotor apraxia, Growth delay, Ataxia 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

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

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