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Gene: Paupar MGI:5543919

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Gene Summary

Name:
Pax6 upstream antisense RNA
Synonyms:
N/A

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
increased red blood cell distribution width Paupartm1.1(NCC)WCS HOM Early adult 1.39×10-05
increased circulating insulin level Paupartm1.1(NCC)WCS HOM Early adult 1.53×10-28
increased mean platelet volume Paupartm1.1(NCC)WCS HOM Early adult 6.50×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Legacy Phenotype Associated Images
Paupartm1.1(NCC)WCS
eye, abnormal eye morphology, eye opacity, corneal opacity, narrow eye opening, HOM, Female, WTSI

Human diseases caused by Paupar 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 Paupar by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Type II diabetes mellitus, D... OMIM:616860
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin concentration, Glycosuria, H... ORPHA:552
Erythrocytosis, Familial, 5
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... OMIM:617907
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Dominant Beta-Thalassemia
Delayed puberty, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscular he... ORPHA:231226
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Recurrent ... ORPHA:276556
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur... ORPHA:263455
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypergonadotropic hypogonadism ORPHA:79237
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume, Splenomegaly, Lymphopen... ORPHA:84064
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia, Abnormality of the endocrine system ORPHA:487796
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Pancreatic islet-cell ... OMIM:246200
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Anemia ORPHA:230
Congenital Generalized Lipodystrophy
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Precocious puberty in females ORPHA:528
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Thrombocytopenia, Hyperinsulinemi... OMIM:620185
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc... ORPHA:71212
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance, Hypothyroid... ORPHA:769
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Splenomegaly OMIM:613327
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Decreased serum leptin, Elevated hemoglobin A1c, Splenomegaly, Type II diabetes... OMIM:269700
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus OMIM:248370
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Splenomegaly, Diabetes mellitus, Insulin-resistant diab... OMIM:608594
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Increased circulating renin level, Central hypothyroidism... ORPHA:508
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Glycosuria, Hyperglycemia, Type... ORPHA:79474
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia ORPHA:2126
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99226
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosi... ORPHA:2968
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Abnormal circulating thyroid hormone concentration, Thrombocytopenia, Leuk... OMIM:619991
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... ORPHA:64
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Insulin resista... ORPHA:79318

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 Paupar

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 Paupar.

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) Paupartm1.1(NCC)WCS PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Paupartm1.1(NCC)WCS PMC6671969

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MGI Allele Allele Type Produced
Paupartm1(NCC)WCS Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Paupartm1.1(NCC)WCS Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Paupartm1000704(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Paupartm1001629(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Paupartm1000705(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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