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
increased circulating insulin level Glt8d2tm1a(KOMP)Wtsi HOM Early adult 1.98×10-06
preweaning lethality, incomplete penetrance Glt8d2tm1a(KOMP)Wtsi HOM   Early adult 0.00
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 Whole Body 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 Skull 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
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Increas... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:71529
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increased C-peptide level, Decreas... ORPHA:79644
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hypertriglyceridemia, Insulin-resistant diabetes mell... ORPHA:280356
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Increased C-peptide level, Excessive insulin response to glucagon test, De... ORPHA:276556
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:613502
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia OMIM:613500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperuricemia, Type II... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, E... ORPHA:552
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Myeloma, Multiple
Paraproteinemia OMIM:254500
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
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 IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating total IgA... OMIM:618969
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Increased C-peptide level, Decreased plasma carniti... ORPHA:71212
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia ORPHA:363400
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:619281
Congenital Generalized Lipodystrophy
Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, H... ORPHA:528
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, Gl... ORPHA:785
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:618394
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Decrea... OMIM:203800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Inc... ORPHA:769
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia OMIM:619705
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Insulin resistance, Hyp... OMIM:613327
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:619510
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgE level OMIM:619632
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619752
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Type II diabetes mel... OMIM:151660
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased circulating tota... ORPHA:169160
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Immunodeficiency 92
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:619652
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Reduced antigen-specific T cell... ORPHA:331206
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Decreased response to gro... OMIM:176270
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, ... ORPHA:508
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Abnormal immunoglobulin level, ... ORPHA:276
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsu... ORPHA:2126
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Atypical Werner Syndrome
Glycosuria, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mellitus, Fasting hyper... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:608594
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Partial IgA deficiency, Lack of... ORPHA:35078
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:269700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Absent specific antibody respon... OMIM:102700
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Hypercholesterolemia, De... ORPHA:273
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Agam... OMIM:300755
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:600903
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:612301
Turner Syndrome
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Glucose intolerance, Type I... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Glucose intolerance, Type I... ORPHA:99413
Mosaic Monosomy X
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Glucose intolerance, Type I... ORPHA:99228
Monosomy X
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Glucose intolerance, Type I... ORPHA:99226
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449432
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Bone marrow hypocellularity, In... ORPHA:2442
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Inc... OMIM:618213
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... ORPHA:79318
Alström Syndrome
Primary hypothyroidism, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Pube... 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)