Gene Summary

Name:
myosin, light polypeptide 4
Synonyms:
MLC1a,  Myla,  ELC,  ELC1a

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
decreased IgA level Myl4tm1a(EUCOMM)Wtsi HOM Early adult 1.64×10-07
increased circulating iron level Myl4tm1a(EUCOMM)Wtsi HOM Early adult 3.72×10-05
decreased IgM level Myl4tm1a(EUCOMM)Wtsi HOM Early adult 4.80×10-05
decreased IgG3 level Myl4tm1a(EUCOMM)Wtsi HOM Early adult 5.67×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Myl4 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 Myl4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Fibrillation, Familial, 18
OMIM:617280
Familial Atrial Fibrillation
ORPHA:334

The table below shows human diseases predicted to be associated to Myl4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
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
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... OMIM:618944
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Hypocystinemia, Decreased serum creatinine, Hypohomocystein... OMIM:617744
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... ORPHA:98813
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, A... OMIM:241600
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 15B
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... OMIM:615592
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circu... OMIM:620282
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating total IgM, Hypoalbuminemia, Hypocalce... ORPHA:90362
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... ORPHA:169160
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:615758
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T... ORPHA:331206
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent isohemagglutinin level OMIM:613501
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency 48
Panhypogammaglobulinemia OMIM:269840
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia ORPHA:100025
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased circulating antibod... OMIM:619802
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level OMIM:616005
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... ORPHA:276
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Abnormal natural killer cell ... OMIM:613101
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Hypocalcemic seizures, Decrease... OMIM:612301
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Hypocalcemia, Decreased circula... OMIM:607143
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Decreased serum iron OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Immunodeficiency 46
Decreased circulating antibody level OMIM:616740
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... OMIM:308240
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Immunodeficiency 47
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... OMIM:300972
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased... OMIM:606367
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Abnormal circulating IgM level, Elevated circulating C-reactive ... OMIM:618048
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614700
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia, Decreased circulating antibod... OMIM:300635
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
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... ORPHA:90363
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
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
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Immunodeficiency 52
Decreased circulating antibody level OMIM:617514
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... ORPHA:221139
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618108
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia OMIM:601457
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Decreased circulating IgA level OMIM:212750
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating alpha-feto... ORPHA:420741
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased circulating I... OMIM:613327
Immunodeficiency 27A
Increased circulating IgG level, Hypoalbuminemia, Increased circulating IgM level OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Ataxia-Telangiectasia
Decreased circulating IgG level, Elevated circulating alpha-fetoprotein concentration, Decreased ... OMIM:208900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia OMIM:619693
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hypoalbuminemia, Decreased circulating IgA level, Hypocholestero... OMIM:212065
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level OMIM:616576
Selective Igm Deficiency
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Decreased circulating antibody level ORPHA:397596
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Hypertriglyceridemia, Hypercalcemia, Decreased circulating IgA l... ORPHA:369837
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... OMIM:617388
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:619767
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Elevated circulating C-reactive protein concentration, Increased... OMIM:617099
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased circulating antibody level, Hyperhomocystinemia OMIM:617780
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, De... ORPHA:29073
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Decreased circulating antibody level, Elevated circulating C-reactive protein concentration, Elev... OMIM:619750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:508533
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia ORPHA:251009
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Hypocholesterolemia OMIM:223370
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Reduced natural killer cell activity, Abse... OMIM:615559
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level OMIM:615122
Ataxia-Telangiectasia
Decreased circulating antibody level ORPHA:100
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... ORPHA:540
Agammaglobulinemia 1, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level OMIM:601495
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D... ORPHA:572
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Decreased circulating total IgA, Decreased... OMIM:619381
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... OMIM:600802
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... OMIM:618183
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Griscelli Syndrome
Abnormal circulating lipid concentration, Bone marrow hypocellularity, Decreased circulating anti... ORPHA:381
Alg12-Cdg
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... ORPHA:79324
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... OMIM:615934
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Immunodeficiency 12
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... OMIM:615468
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
X-Linked Agammaglobulinemia
Agammaglobulinemia, Hypocalcemia ORPHA:47
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Decreased circulating antibody level OMIM:226300
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Primary Biliary Cholangitis
Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ... ORPHA:186
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Autosomal Agammaglobulinemia
Agammaglobulinemia ORPHA:33110
Hereditary Folate Malabsorption
Decreased circulating antibody level ORPHA:90045
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... OMIM:618986
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Icf Syndrome
Decreased circulating antibody level ORPHA:2268
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level OMIM:615952
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Macrocephaly/Autism Syndrome
Decreased circulating antibody level OMIM:605309
Thymoma
Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circulating antibody... ORPHA:99867
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Elevated circulating creatine kinase conce... OMIM:614576
Lassa Fever
Increased circulating IgM level ORPHA:99824
Pgm3-Cdg
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:443811
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Abnorma... ORPHA:2298
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Decreased circulating antibody level OMIM:243150
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity OMIM:301078
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Decreased circulating antibody level OMIM:242900
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Good Syndrome
Decreased circulating antibody level ORPHA:169105
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Hypoalbuminemia, Bone marrow hypocellularity OMIM:617303
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level OMIM:617425
Trichohepatoenteric Syndrome 1
Decreased circulating antibody level, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, ... OMIM:222470
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... ORPHA:79329
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Hyperbilirubinemia ORPHA:562639
Postinfectious Vasculitis
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... ORPHA:48435
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Decreased circulating antibody level ORPHA:293978
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level OMIM:248500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia ORPHA:935
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level OMIM:619472
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... ORPHA:79124
Cowden Syndrome 1
Decreased circulating antibody level OMIM:158350
Japanese Encephalitis
Hyponatremia, Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level ORPHA:79078
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia OMIM:307200
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Hypoalbuminemia, Bone marrow hy... ORPHA:505248
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Decreased circulating antibody level ORPHA:79396
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Vici Syndrome
Decreased circulating IgG level, Elevated circulating creatine kinase concentration, Decreased T ... OMIM:242840
Common Variable Immunodeficiency
Decreased circulating antibody level ORPHA:1572
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Cartilage-Hair Hypoplasia
Hypocalcemia, Decreased circulating antibody level ORPHA:175
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Syndromic Diarrhea
Panhypogammaglobulinemia, Abnormality of iron homeostasis ORPHA:84064
Hennekam Syndrome
Hypocalcemia, Decreased circulating antibody level ORPHA:2136
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating C-reactive protein concentration, Decreased cir... OMIM:615688
Whim Syndrome
Decreased circulating antibody level ORPHA:51636
Autoimmune Polyendocrinopathy Type 4
Decreased circulating antibody level ORPHA:227990
Trichothiodystrophy
Panhypogammaglobulinemia ORPHA:33364
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Autoimmune Polyendocrinopathy Type 3
Decreased circulating antibody level ORPHA:227982
Primary Sjögren Syndrome
Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating... ORPHA:289390
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Unconjugated hyperbilirubinemia OMIM:618278
Nijmegen Breakage Syndrome
Dysgammaglobulinemia OMIM:251260
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level OMIM:274000
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating C-reactive... ORPHA:1304
Primary Sclerosing Cholangitis
Hypoalbuminemia, Polyclonal elevation of IgM ORPHA:171
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level ORPHA:99843
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating creatine k... ORPHA:99827
Sponastrime Dysplasia
Decreased circulating antibody level ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level ORPHA:261552
Atrial Fibrillation, Familial, 18
OMIM:617280
Familial Atrial Fibrillation
ORPHA:334

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 Myl4

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 Myl4.

No publications found that use IMPC mice or data for Myl4.

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
Myl4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Myl4tm47401(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Myl4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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