Gene Summary

Name:
glycosyltransferase 8 domain containing 2
Synonyms:
1110021D20Rik

IMPC Data Collections

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
preweaning lethality, incomplete penetrance Glt8d2tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating insulin level Glt8d2tm1a(KOMP)Wtsi HOM Early adult 1.98×10-06
increased circulating amylase level Glt8d2tm1a(KOMP)Wtsi HOM Early adult 3.73×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 143 images

Human diseases caused by Glt8d2 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 Glt8d2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of... OMIM:606762
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl... ORPHA:276575
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Insulin resistance OMIM:617885
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:619707
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c... OMIM:617765
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:613502
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal ... ORPHA:280356
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Increased ... ORPHA:276556
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Abnormal ci... ORPHA:552
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level OMIM:613500
Transcobalamin Deficiency
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... ORPHA:859
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level OMIM:619773
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Increased cir... OMIM:618944
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300400
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:612692
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,... OMIM:615615
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Fast... ORPHA:263455
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating total IgA, Decreased circulating total IgM... OMIM:618969
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increa... ORPHA:2298
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:611926
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr... OMIM:619824
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:620430
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia ORPHA:363400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating total IgM, Reduced natural killer cell act... OMIM:619281
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Increased C-peptide level,... ORPHA:528
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgA level,... OMIM:618534
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,... OMIM:619774
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:614069
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... ORPHA:2457
Immunodeficiency 112
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:620449
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607594
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Immunodeficiency 52
Defective T cell proliferation, Decreased circulating antibody level, Decreased circulating IgA l... OMIM:617514
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Pancreatic islet-cell ... OMIM:246200
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes ... OMIM:608612
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Hypokalemia, Fasting hypoglycemia, Impaired glucose tolerance... ORPHA:769
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:601859
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgG level OMIM:619705
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619510
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:301081
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Increased blood urea nitrogen, Insulin resistance, Elevated circu... ORPHA:230
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resista... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Immunodeficiency 10
Increased circulating IgG3 level, Increased circulating IgA level, Decreased circulating IgG leve... OMIM:612783
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperglycemia, T... OMIM:151660
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased response to growth hormo... OMIM:203800
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Hyperglycemia, Hypercho... OMIM:248370
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Hyperinsulinemia,... OMIM:176270
Immunodeficiency 92
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal B cell proliferation, ... OMIM:619652
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:169154
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased ci... ORPHA:331206
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:615758
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:612782
Leprechaunism
Hyperinsulinemia, Hypokalemia, Fasting hypoglycemia, Increased circulating renin level, Central h... ORPHA:508
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Reduced C-peptid... ORPHA:2126
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level OMIM:616005
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Elevated hemoglobin A1c, Type II ... OMIM:269700
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Diabetes mellitus, Insulin-resist... OMIM:608594
Atypical Werner Syndrome
Hypertriglyceridemia, Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Glycosuri... ORPHA:79474
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... ORPHA:35078
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300755
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... OMIM:618213
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99226
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Abnormal circulating thyroid ... OMIM:619991
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Reduced thyroxi... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased r... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968

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 Glt8d2

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 Glt8d2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systems genetics in diversity outbred mice inform BMD GWAS and identify determinants of bone strength. Nature communications (June 2021) Glt8d2tm1a(KOMP)Wtsi PMC8184749
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Glt8d2tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Glt8d2tm1a(KOMP)Wtsi Glt8d2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Glt8d2tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)