Gene Summary

Name:
folylpolyglutamyl synthetase
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased startle reflex Fpgstm1a(EUCOMM)Hmgu HET Early adult 2.97×10-07
increased IgM level Fpgstm1a(EUCOMM)Hmgu HET Early adult 1.24×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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 Fpgs 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 14A, Autosomal Dominant
Decreased circulating IgG2 level, Decreased specific pneumococcal antibody level, Increased circu... OMIM:615513
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619707
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:613502
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Myeloma, Multiple
Paraproteinemia OMIM:254500
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Increased circulating IgM ... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia OMIM:613500
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating total IgA... OMIM:618969
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:619281
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Angiostrongyliasis
Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Tremor ORPHA:99965
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:618394
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Dystonia OMIM:615846
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Sneddon Syndrome
Decreased circulating total IgM, Tremor OMIM:182410
Japanese Encephalitis
Opisthotonus, Dystonia, Increased circulating IgM level, Pill-rolling tremor, Increased circulati... ORPHA:79139
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia OMIM:619705
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619752
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:619510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Lassa Fever
Increased circulating IgM level ORPHA:99824
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Bone marrow hypocellularity, In... ORPHA:2442
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgE level OMIM:619632
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:616100
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Tremor, Increased circulati... ORPHA:297
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Reduced natural killer cell activity, Increased circulating antibo... OMIM:615559
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased circulating tota... ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgG4 level, Complement deficiency, In... ORPHA:449400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level ORPHA:505248
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Caffey Disease
Increased circulating antibody level ORPHA:1310
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Tremor ORPHA:206594
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
C3 Glomerulopathy
Decreased serum complement C4, Decreased serum complement C3, Paraproteinemia ORPHA:329918
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Intention tremor, Decreased circulating total IgG, Decreased cir... ORPHA:221139
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Increased circulating IgM level ORPHA:79078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Abnormal immunoglobulin level, ... ORPHA:276
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Absent specific antibody respon... OMIM:102700
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Dystonia, Decreased circulating... ORPHA:79330
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:210900
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Agam... OMIM:300755
Hyperekplexia 1
Exaggerated startle response OMIM:149400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Partial IgA deficiency, Lack of... ORPHA:35078
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tularemia
Increased circulating antibody level ORPHA:3392
Leishmaniasis
Increased circulating antibody level ORPHA:507
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:33226
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:614700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:600903
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM ORPHA:171
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Decreased... OMIM:606367
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Head tremor, Dystonia, Tremor OMIM:606002
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Opisthotonus, Decreased circula... ORPHA:508533
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Encephalitis Lethargica
Increased circulating antibody level, Tremor ORPHA:83600
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Abnormal circulating interleuki... ORPHA:3261
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449432
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:612301
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... ORPHA:183675
Aspergillosis
Increased circulating IgE level ORPHA:1163
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Pneumocystosis
Increased circulating antibody level ORPHA:723
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Increased circulating IgG level, Bone marrow hypoc... ORPHA:443811
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating total IgM, Decreased circulating IgA leve... ORPHA:90363
Selective Igm Deficiency
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein... ORPHA:331235
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Tay-Sachs Disease
Laryngeal dystonia, Dystonia, Tremor, Exaggerated startle response ORPHA:845
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:301000
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:125
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM ORPHA:420741
Multiple Myeloma
Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ... ORPHA:29073
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Sandhoff Disease
Exaggerated startle response OMIM:268800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Scleromyxedema
Paraproteinemia ORPHA:167635
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Inc... OMIM:618213
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Hyper-Igd Syndrome
Increased circulating IgA level, Increased circulating IgD level OMIM:260920
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG1 level, Increased circulating IgG level,... ORPHA:449395
Q Fever
Increased circulating antibody level, Cryoglobulinemia ORPHA:781
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Decreased serum complement factor B, Increased circulating IgG l... ORPHA:2298
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
Postinfectious Vasculitis
Increased circulating antibody level, Increased circulating IgA level, Abnormality of humoral imm... ORPHA:48435
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Primary Sjögren Syndrome
Decreased serum complement C4, Decreased circulating antibody level, Increased circulating antibo... ORPHA:289390
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... OMIM:256040
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Trichinellosis
Increased circulating IgE level ORPHA:863
Gaucher Disease
Increased circulating antibody level, Tremor ORPHA:355
Cysticercosis
Increased circulating antibody level ORPHA:1560
Lysinuric Protein Intolerance
Increased circulating antibody level, Abnormality of humoral immunity, Complement deficiency, Dec... ORPHA:470
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... OMIM:619381
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Increased circulating IgE level ORPHA:449563
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Marburg Hemorrhagic Fever
Increased circulating antibody level ORPHA:99826
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472

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 Fpgs

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 Fpgs.

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

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Fpgstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fpgstm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Fpgstm26672(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fpgstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter