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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus 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
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
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
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit... ORPHA:35878
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Palmar telangiectasia OMIM:175850
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder ORPHA:369873
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... ORPHA:181393
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... ORPHA:324575
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
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
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus OMIM:615703
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Lipodystrophy, Diabetes mellitus,... OMIM:612526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes m... ORPHA:79085
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hyp... ORPHA:363400
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Decreased ... ORPHA:435660
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Moyamoya Disease
Telangiectasia ORPHA:2573
Immunodeficiency 8
Hyperactivity OMIM:615401
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus OMIM:615980
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension OMIM:615506
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Attention deficit hyperactivity disorder, Hypogonadism, Insulin resi... ORPHA:73272
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral hemorrhage OMIM:603284
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Hypogonadism, Diabetes mellitus OMIM:615381
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Generalized l... OMIM:608612
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Lipodystrophy, Adipose tissue loss, Diabetes mel... ORPHA:528
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Pancreatic islet-cell hyperplas... OMIM:246200
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Maternal diabetes, Loss of facial adipose tissue, Insulin-resistant diabetes mellitu... ORPHA:79083
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Placental Insufficiency
Insulin resistance ORPHA:439167
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Lipodystrophy, Diabetes mellitus, Insulin resistance, Loss of subcutaneous adipose t... ORPHA:2348
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Hyperinsulinemia, Insulin resistance ORPHA:230
Primary Lipodystrophy
Insulin resistance, Lipodystrophy, Type II diabetes mellitus, Lipoatrophy ORPHA:90970
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus OMIM:233805
Galactokinase Deficiency
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:79237
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resista... ORPHA:79086
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Seckel Syndrome 10
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... OMIM:617253
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre... ORPHA:280365
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Short Syndrome
Insulin resistance, Lipodystrophy, Diabetes mellitus ORPHA:3163
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency OMIM:210740
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased hematocrit, Increased mean ... ORPHA:90041
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystrophy, Insulin-resis... ORPHA:435651
Werner Syndrome
Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Lipodystrophy, Hypogonadism, Insulin r... ORPHA:902
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Lipodystrophy, Hyperinsulinemia OMIM:613327
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche ORPHA:813
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... ORPHA:71212
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... OMIM:608594
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Diabetes mellitus OMIM:616541
Monosomy 13Q34
Insulin resistance ORPHA:96168
Whipple Disease
Insulin resistance, Hypothyroidism ORPHA:3452
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Insulin resist... ORPHA:508
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Prader-Willi Syndrome
Adrenal insufficiency, Hyperinsulinemia, Precocious puberty, Type II diabetes mellitus, Decreased... OMIM:176270
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia OMIM:245400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased response to growth hormone stimulation test, Insulin resistance, Fa... ORPHA:96182
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:91
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... OMIM:275000
Bardet-Biedl Syndrome 1
Insulin resistance, Nephrogenic diabetes insipidus, Hypogonadism, Diabetes mellitus OMIM:209900
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mellitus OMIM:609069
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... OMIM:606721
Gitelman Syndrome
Glucose intolerance, Type II diabetes mellitus, Graves disease, Parathyroid adenoma, Diabetic ket... ORPHA:358
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulatin... ORPHA:95717
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:95716
Atypical Werner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Glycosuria, Generalized lipodystrophy, ... ORPHA:79474
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Hypothyroidism, Attention deficit hyperactivity disorder, Diabete... ORPHA:449291
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Decreased serum insulin-like gr... ORPHA:85327
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Diabetes mellitus ORPHA:125
Primary Erythromelalgia
Hypothermia ORPHA:90026
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Hypothermia, Goiter, Hypothyroidism ORPHA:226292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hypothermia OMIM:251880
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hypothermia ORPHA:159
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulat... ORPHA:226313
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... ORPHA:226307
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... ORPHA:99226
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... ORPHA:90674
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaire... ORPHA:90673
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Normocytic anemia, Increased circulating IgG level, Reduced... ORPHA:91500
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:226316
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypothermia OMIM:618329
Dend Syndrome
Hyperglycemia ORPHA:79134
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Hutchinson-Gilford Progeria Syndrome
Delayed menarche, Pubertal developmental failure in females, Decreased serum leptin, Absence of s... ORPHA:740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypothermia ORPHA:26793
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Hyperactivity, Decreased response to growth hormone stimulation test, Elevat... ORPHA:280651
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... ORPHA:424
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hypothermia, Recurrent hypoglycemia ORPHA:20
Alexander Disease
Hypothyroidism, Hypothermia, Precocious puberty, Diabetes mellitus ORPHA:58
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimula... ORPHA:293987
Menkes Disease
Hypoglycemia, Hypothermia ORPHA:565
Pmm2-Cdg
Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonadotropic hypogonadis... ORPHA:79318
Liver Disease, Severe Congenital
Hyperinsulinemic hypoglycemia OMIM:619991
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thy... OMIM:218700
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Histidinemia
Hyperactivity ORPHA:2157

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.

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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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