banner
Genes Phenotypes Help, News, Blog

Gene: Appl1 MGI:1920243

Log in to follow
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
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... 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
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperi... ORPHA:35878
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Increased adipose tissue, Polyphagia ORPHA:71529
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
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
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... ORPHA:324575
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance, Lipoatrophy ORPHA:79084
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia ORPHA:329249
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... ORPHA:280356
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia OMIM:617885
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Glucose intolerance ORPHA:369873
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... ORPHA:181393
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellitus, Reduced... OMIM:604367
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... OMIM:616033
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance OMIM:615703
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera... OMIM:612526
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Agitation, Diffuse pancreatic islet hype... ORPHA:276556
Tempi Syndrome
Increased hematocrit, Increased circulating IgG level, Polycythemia ORPHA:284227
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased... ORPHA:79085
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... ORPHA:69076
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Schizophrenia 15
Hyperactivity OMIM:613950
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subcutaneous adip... ORPHA:363400
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... OMIM:615363
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Moyamoya Disease
Telangiectasia ORPHA:2573
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... ORPHA:552
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Insulin resistance OMIM:615980
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance OMIM:610947
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism ORPHA:791
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Essential Fructosuria
Hyperglycemia ORPHA:2056
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Mandibuloacral Dysplasia
Hyperinsulinemia, Insulin resistance, Increased adipose tissue around the neck, Reduced intrathor... ORPHA:2457
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... ORPHA:263455
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Insulin resistance, Hypoglycemia, Attention deficit hyperactivity di... ORPHA:73272
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Riboflavin Deficiency
Hypothermia, Hypoglycemia OMIM:615026
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral hemorrhage OMIM:603284
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Lipodystrophy, Diabetes mellitus, Loss of subcutaneous adi... OMIM:615381
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... ORPHA:785
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, Diabetic ketoacidosis... ORPHA:2298
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Decreased adipose tissue around neck, Loss of facial adipose tissue, Loss of su... OMIM:608612
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodys... ORPHA:528
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Diabetes mellitus, Loss of subcutaneous adipose tissue in ... ORPHA:79083
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic... OMIM:246200
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Placental Insufficiency
Insulin resistance ORPHA:439167
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... ORPHA:769
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Lipodystrophy, Diabetes mellitus, Loss of subcutaneous adipose tissue in limb... ORPHA:2348
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Primary Lipodystrophy
Lipodystrophy, Type II diabetes mellitus, Insulin resistance, Lipoatrophy ORPHA:90970
Short Syndrome
Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperglycemia, Lipoatroph... OMIM:269880
Galactokinase Deficiency
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:79237
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
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
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Generalized lipodystrophy, Panniculitis, Insulin-resistant ... ORPHA:79086
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Insulin resistance, Diabetes mellitus, Elevated circulati... OMIM:617253
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... ORPHA:280365
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Short Syndrome
Lipodystrophy, Diabetes mellitus, Insulin resistance ORPHA:3163
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Increased facial adipose tissue, Impaired glucose tolerance, Reduced subcutaneo... OMIM:248370
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
Lipodystrophy, Hyperinsulinemia, Insulin resistance, Dysphagia OMIM:613327
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... ORPHA:435651
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:608594
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Bangstad Syndrome
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus OMIM:210740
Werner Syndrome
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Li... ORPHA:902
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seiz... ORPHA:71212
Silver-Russell Syndrome
Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Premature adrenarche ORPHA:813
Whipple Disease
Hypothyroidism, Insulin resistance, Polydipsia ORPHA:3452
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:269700
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Graves Disease, Susceptibility To, 1
Hyperactivity, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves... OMIM:275000
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Monosomy 13Q34
Insulin resistance ORPHA:96168
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Hypothyroidism, Insulin resistance OMIM:616541
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hyperactivity, Congenital hypothyroidism OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hypoglycemia OMIM:617600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Oral aversion, Precocious puberty, Decreased response to growth hormone stimulation test, Insulin... ORPHA:96182
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia OMIM:615986
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... OMIM:176270
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Reduced subcutaneous adipose tissue... ORPHA:508
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... OMIM:258900
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Gitelman Syndrome
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Maternal diabetes, Insulin... ORPHA:358
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Hypoglycemia OMIM:245400
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Reduced subcutaneous adipose tissue, Insulin resistance, Type I diabe... OMIM:606721
Aromatase Deficiency
Type II diabetes mellitus, Insulin resistance, Hypergonadotropic hypogonadism ORPHA:91
Cole Disease
Hyperglycemia OMIM:615522
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Nephrogenic diabetes insipidus, Hypogonadism OMIM:209900
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Atypical Werner Syndrome
Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas... ORPHA:79474
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Attention deficit hyperactivit... ORPHA:449291
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Bloom Syndrome
Diabetes mellitus, Insulin resistance, Adipose tissue loss ORPHA:125
Steinert Myotonic Dystrophy
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... ORPHA:273
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Permanent Congenital Hypothyroidism
Hypothermia, Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Hypothermia, Fasting hypoglycemia ORPHA:159
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Incr... OMIM:609152
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... ORPHA:99226
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Hypoglycemia OMIM:618329
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Increased circulatin... ORPHA:91500
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal radioactive... ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Familial Gestational Hyperthyroidism
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxi... ORPHA:99819
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hypoglycemia OMIM:251880
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxi... ORPHA:424
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in females, Insu... ORPHA:740
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calc... ORPHA:280651
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... ORPHA:293987
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Thyr... OMIM:218700
Liver Disease, Severe Congenital
Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia OMIM:619991
Pmm2-Cdg
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter