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Gene: Pigz MGI:2443822

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Gene Summary

Name:
phosphatidylinositol glycan anchor biosynthesis, class Z
Synonyms:
F630022B06Rik

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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
increased total body fat amount Pigzem1(IMPC)J HOM Early adult 4.14×10-06
increased circulating glucose level Pigzem1(IMPC)J HOM Early adult 7.83×10-07
decreased bone mineral content Pigzem1(IMPC)J HOM Early adult 8.56×10-06

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electroretinography 3

Fundus file

11 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Pigz 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 Pigz by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Essential Fructosuria
Hyperglycemia ORPHA:2056
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... OMIM:248370
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint c... OMIM:175700
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... OMIM:269880
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hypergly... OMIM:246200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis OMIM:615954
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Fanconi-Bickel Syndrome
Osteopenia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fasting hypoglycemia, Glycosu... ORPHA:2088
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Cole Disease
Hyperglycemia OMIM:615522
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Pos... OMIM:227810
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Diabetes mellitus, Osteoporosis ORPHA:465508
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Arthrogryposis multiplex congenita, Inguinal hernia, Flexion contracture ORPHA:440713
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Diabetes mellitus, Lipoatrophy, Insulin-r... ORPHA:79474
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Dend Syndrome
Hyperglycemia ORPHA:79134
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... ORPHA:99885
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap... OMIM:600001
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Recurrent infantile hy... ORPHA:508
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia OMIM:124000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Inguinal hernia OMIM:220111
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia ORPHA:293987

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 Pigz

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 Pigz.

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

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MGI Allele Allele Type Produced
Pigztm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pigzem1(IMPC)J Intra-exon deletion Mice
Pigztm46528(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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