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Gene: Plet1 MGI:1923759

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Gene Summary

Name:
placenta expressed transcript 1
Synonyms:
0610037B23Rik,  PLET1,  1600029D21Rik

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 sodium level Plet1em1(IMPC)Wtsi HOM   Early adult 4.27×10-06
increased circulating insulin level Plet1em1(IMPC)Wtsi HOM Early adult 1.76×10-11

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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.

Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Plet1em1(IMPC)Wtsi
HOM, Female, WTSI
Plet1em1(IMPC)Wtsi
HOM, Female, WTSI
Plet1em1(IMPC)Wtsi
HOM, Female, WTSI
Plet1em1(IMPC)Wtsi
HOM, Female, WTSI
Plet1em1(IMPC)Wtsi
HOM, Male, WTSI

View all 89 images

Plet1em1(IMPC)Wtsi
head, abnormal snout morphology, WT, Male, WTSI
Plet1em1(IMPC)Wtsi
abnormal snout morphology, asymmetric snout, head, WT, Male, WTSI
Plet1em1(IMPC)Wtsi
head, abnormal snout morphology, asymmetric snout, WT, Male, WTSI
Plet1em1(IMPC)Wtsi
head, abnormal snout morphology, asymmetric snout, WT, Male, WTSI
Plet1em1(IMPC)Wtsi
head, abnormal snout morphology, WT, Male, WTSI

View all 9 images

Plet1em1(IMPC)Wtsi
cataract, HOM, Female, WTSI

Human diseases caused by Plet1 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 Plet1 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
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
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Increased circulating 18-hydroxycortiso... OMIM:610600
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... ORPHA:199296
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Diarrhea 9
Villous atrophy OMIM:618168
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Decreased circulating total IgM, T lymphocytopenia, Decreased circu... OMIM:619510
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing e... OMIM:613502
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... OMIM:300539
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomega... OMIM:616050
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gast... ORPHA:90362
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... OMIM:618883
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Agammaglobulinemia, Colitis, Neutropenia, Cutaneous anergy, Panhy... OMIM:209920
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Increased ci... OMIM:304790
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Increased circulating IgE level, Duodenitis OMIM:614328
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropen... OMIM:614700
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:203330
Netherton Syndrome
Villous atrophy, Increased circulating IgE level, Hypereosinophilia, Decreased circulating IgG le... OMIM:256500
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomegaly, Anemia ORPHA:100025
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
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
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen OMIM:613845
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... ORPHA:90790
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:201810
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Adrenal insufficiency, Increased circulating renin level, Decreased c... ORPHA:427
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... ORPHA:1667
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... ORPHA:95409
Snakebite Envenomation
Hyponatremia, Hypopituitarism ORPHA:449285
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi... ORPHA:263455
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Adrenal cal... ORPHA:85138
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Bifid uvula OMIM:601110
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:168558
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adr... OMIM:617053
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in ... ORPHA:79237
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir... ORPHA:2298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... OMIM:614162
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... ORPHA:90794
Alg8-Cdg
Hyponatremia ORPHA:79325
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Malabsorption, Thrombocytopenia, Neutropenia... OMIM:557000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... ORPHA:411634
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Whipple Disease
Hyponatremia, Insulin resistance, Hypothyroidism ORPHA:3452
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal carcinoma, ... ORPHA:391487
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyrin concentration, Hypon... ORPHA:79473
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Steatorrhea, Thrombocytosis, Decreased circulating IgG level, Decreased circulat... OMIM:212065
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Splenomegaly, ... OMIM:619381
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Anemia OMIM:619377
Syndromic Diarrhea
Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, Hypoplasia of ... ORPHA:84064
Infant Botulism
Hyponatremia ORPHA:178478
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin resistance, Hyper... ORPHA:528
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypoalbuminem... ORPHA:79324
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Legionnaires Disease
Hyponatremia ORPHA:549
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... ORPHA:89938
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Reduced circulating growth hormone concentration, Hypoalbuminemia OMIM:615508
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Trichohepatoenteric Syndrome 1
Villous atrophy, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody lev... OMIM:222470
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Reduced blood urea nitrogen, Hypophosphatemia, H... OMIM:219800
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Hyponatremia ORPHA:79139
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia, Panhypopituitarism, Anterior hypopituitarism, Diab... ORPHA:2162
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Primary adrenal insufficiency, Hyperka... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Hypophosphatemia, Abnormal circulating calcium-... ORPHA:534
Familial Dysautonomia
Hyponatremia ORPHA:1764
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Villous atrophy ORPHA:567983
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... OMIM:248370
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating thyroid ... OMIM:619991
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Alg9-Cdg
Villous atrophy, Gastroesophageal reflux, Bifid uvula ORPHA:79328
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... ORPHA:508
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... ORPHA:2126
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
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
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-... OMIM:269700
Atypical Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentration, Insulin-resis... ORPHA:79474
Whim Syndrome
Abnormal small intestine morphology, Abnormal neutrophil morphology, Decreased circulating antibo... ORPHA:51636
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Hartsfield Syndrome
Hypernatremia, Gonadotropin deficiency, Diabetes insipidus OMIM:615465
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Bra... ORPHA:2929
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
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormal cortical gyration, Cleft palate, Abnormality of the... OMIM:219000
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 Plet1

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 Plet1.

There are 5 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) Plet1em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Plet1em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Plet1em1Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Plet1em1Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Plet1em1Wtsi PMC5827107

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MGI Allele Allele Type Produced
Plet1tm281968(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plet1em1(IMPC)Wtsi Deletion Mice

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