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Gene: Appl1 MGI:1920243

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Synonyms:
2900057D21Rik,  7330406P05Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Appl1 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.

The table below shows human diseases associated to Appl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511

The table below shows human diseases predicted to be associated to Appl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Palmar telangiectasia, Plantar telangiectasia OMIM:175850
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Cortisone Reductase Deficiency 2
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... OMIM:614662
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Polyphagia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus OMIM:615703
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy... OMIM:612526
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Schizophrenia 15
Hyperactivity OMIM:613950
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Moyamoya Disease
Telangiectasia ORPHA:2573
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus OMIM:615980
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Increased adipose tissue aroun... ORPHA:2457
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
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
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral hemorrhage OMIM:603284
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:263455
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Riboflavin Deficiency
Hypothermia, Hypoglycemia OMIM:615026
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... OMIM:615381
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism, Attention deficit hyperactivity disorder, Hyperac... ORPHA:73272
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Placental Insufficiency
Insulin resistance ORPHA:439167
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Adipose tissue loss, Lipodys... ORPHA:528
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Loss of s... ORPHA:79083
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia ORPHA:230
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Diabetes mellitu... ORPHA:2348
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Short Syndrome
Insulin resistance, Lipodystrophy, Diabetes mellitus ORPHA:3163
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Lipodystrophy, Dysphagia OMIM:613327
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Gaisböck Syndrome
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipody... OMIM:608594
Bangstad Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Werner Syndrome
Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Lipodystrophy, Li... ORPHA:902
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Whipple Disease
Insulin resistance, Hypothyroidism, Polydipsia, Anorexia ORPHA:3452
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... ORPHA:71212
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia ORPHA:813
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose... OMIM:269700
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Diabetes mellitus OMIM:616541
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Decreased response to growth hormone stimulation tes... OMIM:176270
Monosomy 13Q34
Insulin resistance ORPHA:96168
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon... ORPHA:96182
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... OMIM:620185
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Polydipsia, Graves disease, Glucose intolerance, Ty... ORPHA:358
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Decreased adipose tissue aroun... OMIM:606721
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Hypoglycemia OMIM:245400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... ORPHA:95717
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:91
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism OMIM:209900
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Bloom Syndrome
Insulin resistance, Diabetes mellitus, Adipose tissue loss ORPHA:125
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Oral-pharyngeal dysphagia, Decreased response to growth ho... ORPHA:273
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Hypothermia, Fasting hypoglycemia ORPHA:159
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99228
Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99226
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Hypoglycemia OMIM:618329
Bardet-Biedl Syndrome
Insulin resistance, Hypogonadism, Impaired fasting glucose, Type II diabetes mellitus, Hypothyroi... ORPHA:110
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:99819
Alexander Disease
Self-injurious behavior, Precocious puberty, Hypothermia, Hypothyroidism, Dysphagia, Diabetes mel... ORPHA:58
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Polydipsia, Central hypothyroidism, Increased circ... ORPHA:293987
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Nonketotic hypoglycemia, Hypothermia, Recurrent hypoglycemia ORPHA:20
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:424
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hypoglycemia OMIM:251880
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Pubertal developmental failure... ORPHA:740
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Liver Disease, Severe Congenital
Hyperinsulinemic hypoglycemia, Abnormal circulating thyroid hormone concentration OMIM:619991
Pmm2-Cdg
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir... ORPHA:79318
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
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 Appl1

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 Appl1.

No publications found that use IMPC mice or data for Appl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Appl1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Appl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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