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Gene: Chgb MGI:88395

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
chromogranin B
Synonyms:
secretogranin I,  Scg-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Chgb 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 Chgb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Hype... OMIM:605373
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
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
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... ORPHA:263455
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia OMIM:615935
Pure Autonomic Failure
Anhidrosis, Abnormality of circulating catecholamine level ORPHA:441
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:264350
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp... OMIM:246200
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... OMIM:231550
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Reni Syndrome
Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level ORPHA:427
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... ORPHA:231222
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Adrenal cal... ORPHA:85138
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231226
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma ORPHA:139411
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Adrenal insufficiency, Decrea... OMIM:617053
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... OMIM:276700
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... ORPHA:199299
Myasthenia Gravis
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Cholesteryl Ester Storage Disease
Adrenal insufficiency, Adrenal calcification OMIM:278000
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase... ORPHA:95409
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231214
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis OMIM:307030
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Zellweger Syndrome
Cryptorchidism, Primary adrenal insufficiency ORPHA:912
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob... ORPHA:373
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
D-Bifunctional Protein Deficiency
Bile duct proliferation, Primary adrenal insufficiency OMIM:261515
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363958
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Orchitis, Hyperhidrosis, Adrenal insufficiency, Inappropriate antidiuretic ho... ORPHA:99827
Pallister-Hall Syndrome
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... ORPHA:672
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatoblastoma OMIM:312870
Microphthalmia, Syndromic 2
Cryptorchidism, Hypothyroidism, Adrenal insufficiency OMIM:300166
Acute Liver Failure
Adrenal insufficiency ORPHA:90062
Orofaciodigital Syndrome Type 4
Monorchism, Primary adrenal insufficiency, Decreased testicular size, Absent testis ORPHA:2753

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 Chgb

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 Chgb.

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

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
Chgbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chgbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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