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Gene: Glt8d2 MGI:1922032

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Gene Summary

Name:
glycosyltransferase 8 domain containing 2
Synonyms:
1110021D20Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
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
increased circulating insulin level Glt8d2tm1a(KOMP)Wtsi HOM Early adult 1.98×10-06

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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 Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Legacy Phenotype Associated Images
Glt8d2tm1a(KOMP)Wtsi
HET, Female, WTSI
Glt8d2tm1a(KOMP)Wtsi
HET, Male, WTSI
Glt8d2tm1a(KOMP)Wtsi
HET, Male, WTSI
Glt8d2tm1a(KOMP)Wtsi
HET, Female, WTSI
Glt8d2tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 143 images

Glt8d2tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Glt8d2tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

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
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... OMIM:606762
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
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
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, 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
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
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
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
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
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi... ORPHA:263455
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir... ORPHA:2298
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in ... ORPHA:79237
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin resistance, Hyper... ORPHA:528
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... ORPHA:98813
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... OMIM:248370
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:615758
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... ORPHA:508
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... ORPHA:2126
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
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-... OMIM:269700
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... OMIM:608594
Atypical Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentration, Insulin-resis... ORPHA:79474
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
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
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating thyroid ... OMIM:619991
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... 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) Glt8d2tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Glt8d2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Glt8d2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Glt8d2tm42713(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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