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Gene: Fpgs MGI:95576

Gene Summary

Name:

folylpolyglutamyl synthetase

Synonyms:

N/A

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased startle reflex		Fpgs^{tm1a(EUCOMM)Hmgu}	HET		Early adult	2.97×10^-07
increased IgM level		Fpgs^{tm1a(EUCOMM)Hmgu}	HET		Early adult	1.24×10^-05

Download data as: TSV XLS

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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.

Human diseases associated with Fpgs (0 diseases)
Human diseases predicted to be associated with Fpgs (276 diseases)

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	Matching phenotypes	Source
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
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 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
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 IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Kimura Disease	Increased circulating IgE level	ORPHA:482
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
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 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level	OMIM:615816
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Japanese Encephalitis	Tremor, Opisthotonus, Pill-rolling tremor, Choreoathetosis, Increased circulating IgM level, Incr...	ORPHA:79139
O'Sullivan-Mcleod Syndrome	Tremor, Increased circulating antibody level	ORPHA:99965
Sneddon Syndrome	Tremor, Decreased circulating total IgM	OMIM:182410
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function	ORPHA:277
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iii	Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo...	OMIM:615559
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Tick-Borne Encephalitis	Tremor, Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulati...	ORPHA:297
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Caffey Disease	Increased circulating antibody level	ORPHA:1310
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Subacute Inflammatory Demyelinating Polyneuropathy	Tremor, Increased circulating IgG level, Choreoathetosis	ORPHA:206594
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating total IgM, Dystonia, Decreased circul...	ORPHA:79330
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Tularemia	Increased circulating antibody level	ORPHA:3392
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Waldenström Macroglobulinemia	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:33226
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM	ORPHA:171
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I...	OMIM:102700
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Increased circulating antibody level, Head tremor, Dystonia	OMIM:606002
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Encephalitis Lethargica	Tremor, Increased circulating antibody level	ORPHA:83600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Opisthotonus, Decreased ci...	ORPHA:508533
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina...	ORPHA:331235
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:443811
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level	OMIM:304790
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve...	ORPHA:90363
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level	ORPHA:330015
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level	ORPHA:2314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Scleromyxedema	Paraproteinemia	ORPHA:167635
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Q Fever	Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas...	ORPHA:2298
Postinfectious Vasculitis	Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase...	ORPHA:48435
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Dystonia	OMIM:615846
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level	ORPHA:37042
Primary Sjögren Syndrome	Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating...	ORPHA:289390
Trichinellosis	Increased circulating IgE level	ORPHA:863
Lysinuric Protein Intolerance	Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec...	ORPHA:470
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:619381
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Gaucher Disease	Tremor, Increased circulating antibody level	ORPHA:355
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia	ORPHA:438213
Marburg Hemorrhagic Fever	Increased circulating antibody level	ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA 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.

MGI Allele	Allele Type	Produced
Fpgs^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Fpgs^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Fpgs^{tm26672(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fpgs^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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