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Gene: Cpgi5563 MGI:5670665

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Gene Summary

Name:
CpG island 5563
Synonyms:
CGI5563

Order Alleles

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
decreased circulating cholesterol level Cpgi5563tm1.1(NCC)WCS HOM Early adult 6.44×10-15
decreased circulating LDL cholesterol level Cpgi5563tm1.1(NCC)WCS HOM Early adult 2.86×10-07
decreased blood urea nitrogen level Cpgi5563tm1.1(NCC)WCS HOM Early adult 6.50×10-06
decreased circulating total protein level Cpgi5563tm1.1(NCC)WCS HOM Early adult 3.32×10-07
decreased circulating free fatty acids level Cpgi5563tm1.1(NCC)WCS HOM   Early adult 4.70×10-05
decreased circulating HDL cholesterol level Cpgi5563tm1.1(NCC)WCS HOM Early adult 1.57×10-15
decreased circulating glucose level Cpgi5563tm1.1(NCC)WCS HOM Early adult 4.47×10-05
increased circulating chloride level Cpgi5563tm1.1(NCC)WCS HOM Early adult 2.51×10-05
decreased total body fat amount Cpgi5563tm1.1(NCC)WCS HOM Early adult 1.06×10-08
increased lean body mass Cpgi5563tm1.1(NCC)WCS HOM Early adult 1.57×10-07
increased body length Cpgi5563tm1.1(NCC)WCS HOM Early adult 3.59×10-05
decreased fasting circulating glucose level Cpgi5563tm1.1(NCC)WCS HOM Early adult 1.30×10-06
decreased circulating glycerol level Cpgi5563tm1.1(NCC)WCS HOM Early adult 1.54×10-09
decreased circulating amylase level Cpgi5563tm1.1(NCC)WCS HOM Early adult 3.26×10-27
increased circulating magnesium level Cpgi5563tm1.1(NCC)WCS HOM Early adult 5.46×10-08
decreased circulating triglyceride level Cpgi5563tm1.1(NCC)WCS HOM Early adult 7.46×10-10
preweaning lethality, incomplete penetrance Cpgi5563tm1.1(NCC)WCS HOM   Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Cpgi5563 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 Cpgi5563 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketotic hypoglycemi... ORPHA:26793
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Hypocalciuric Hypercalcemia, Familial, Type Ii
Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:145981
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Stillbirth OMIM:152800
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:600740
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:398063
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Gitelman Syndrome
Glucose intolerance, Hypomagnesemia, Hypocalcemia, Hypokalemia, Type II diabetes mellitus, Failur... ORPHA:358
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Familial Hypocalciuric Hypercalcemia
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Infantile hype... ORPHA:405
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Ménétrier Disease
Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:90362
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Hyponatremia, Hyperuricemia, Diabetes mellitus OMIM:613845
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Orthostatic Hypotension 1
Neonatal hypoglycemia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
East Syndrome
Hypomagnesemia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level ORPHA:199343
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia, Diabetes mellitus ORPHA:2315
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Dengue Fever
Hypoproteinemia ORPHA:99828
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Inguinal hernia OMIM:235255
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Hypomagnesemia 2, Renal
Chondrocalcinosis, Hypomagnesemia, Hypokalemia OMIM:154020
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... OMIM:601678
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:612780
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Neonatal death OMIM:618810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Inguinal hernia ORPHA:1655
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, L... ORPHA:79644
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Maturity-onset diabetes of the young, Abnormal circulating neopterin concentratio... ORPHA:1578
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... ORPHA:89938
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... ORPHA:79102
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia, Insulin resistance, Obesity OMIM:617885
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... ORPHA:79237
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Laron Syndrome
Hypoglycemia, Truncal obesity, Hypercholesterolemia ORPHA:633
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... OMIM:241200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Failure to thrive, Hyperlipidemia ORPHA:369
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... OMIM:615160
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... OMIM:618838
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Cachexia, Decreased prealbumin level, Abnormal blood ion concentrat... ORPHA:37042
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Small for gestational age OMIM:307030
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:617156
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Chondrocalcinosis, Increased circulating renin level OMIM:263800
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... ORPHA:79324
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... OMIM:231100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hyperaldosteronism, Hypocalcemic tetany ORPHA:73224
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Flexion contracture, Steatorrhea, Hypocholesterolemia, Hypoalbuminemia, Abnorm... OMIM:212065
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypocalcemia ORPHA:163693
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Neonatal death, Elevated circulating creatine kinase concentration, Decreased circu... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Neonatal death, Elevated circulating creatine kinase concentration, Decreased circu... OMIM:618839
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... ORPHA:94086
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Tall stature, Decreased circulating cortisol level, Hyponatremia, Neonatal hyp... ORPHA:90794
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Steatorrhea, Small for gestational a... ORPHA:699
Multiple Myeloma
Tall stature, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Wei... ORPHA:29073
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... OMIM:619991
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:614736
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... ORPHA:14
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia, Amelogenesis imperfecta OMIM:248190
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Decreased pl... OMIM:219800
Hypomagnesemia 3, Renal
Failure to thrive, Hypomagnesemia, Hyperuricemia OMIM:248250
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Pierson Syndrome
Hypoproteinemia OMIM:609049
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus, Hypouri... OMIM:616026
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertriglyc... ORPHA:264580
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Juvenile Polyposis Syndrome
Rectocele, Failure to thrive, Multiple lipomas, Hypoproteinemia ORPHA:2929
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... OMIM:617049
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Hyperkalemia ORPHA:90790
Glycogen Storage Disease Ia
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Xanthelasma, Fasting hypoglycemia OMIM:232200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:615751
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Subcutaneous lipoma, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating cortisol level, Increased circulating renin level, Hypog... ORPHA:95409
Late-Onset Isolated Acth Deficiency
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Type I diabetes mellitus, ... ORPHA:199299
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Failure to thrive, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hip contrac... OMIM:619503
Addison Disease
Failure to thrive, Decreased circulating cortisol level, Increased circulating renin level, Hypog... ORPHA:85138
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232220
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232240
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia, Increased circulating cortisol level ORPHA:786
Leptospirosis
Hyperproteinemia ORPHA:509
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia, Neonatal death OMIM:228100
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337

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 Cpgi5563

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 Cpgi5563.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cpgi5563tm1.1(NCC)WCS PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cpgi5563tm1.1(NCC)WCS PMC6671969

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MGI Allele Allele Type Produced
Cpgi5563tm1000462(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpgi5563tm1000451(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpgi5563tm1(NCC)WCS Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Cpgi5563tm1.1(NCC)WCS Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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