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
Type II diabetes mellitus, Insulin resistance OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Gait disturbance, Multiple lipomas, Insulin resistance ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I 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
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
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
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Palmar telangiectasia OMIM:175850
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:324575
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Insulin resistance OMIM:615980
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... ORPHA:181393
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... ORPHA:71526
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance OMIM:615703
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Increased intraabdominal ... ORPHA:79085
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... ORPHA:90301
Immunodeficiency 8
Hyperactivity OMIM:615401
Bangstad Syndrome
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... ORPHA:1227
Moyamoya Disease
Telangiectasia ORPHA:2573
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:435660
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Hypogonadism, Hyperactivity, Attention deficit hyperactivity di... ORPHA:73272
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia OMIM:603284
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... OMIM:608612
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypogonadism, Lipodystrophy, Diabetes mellitus, Insulin resistance OMIM:615381
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... ORPHA:453533
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Lipodystrophy, Adipose tissue loss, Diabetes m... ORPHA:528
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Athetosis, Type I diabetes mellitus, Glycosuria OMIM:618857
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:248370
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resi... ORPHA:79083
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Lipoatrophy, Dia... ORPHA:2348
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypothermia, Insulin resistance ORPHA:230
Placental Insufficiency
Insulin resistance ORPHA:439167
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue OMIM:233805
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Progressive cerebellar ataxia... OMIM:210740
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Primary Lipodystrophy
Lipoatrophy, Lipodystrophy, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized lipodystrophy,... ORPHA:79086
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Insulin resistance ORPHA:199276
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:280365
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Short Syndrome
Lipodystrophy, Diabetes mellitus, Insulin resistance ORPHA:3163
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Insulin resistance, Dysmetria, Ataxia, Dysdiadochokinesis, Diabetes mellitus, H... OMIM:616541
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Fasting hyperinsu... ORPHA:71212
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hyperinsulinemia, Insulin resistance OMIM:613327
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia OMIM:223360
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased red blood cell count, Increased mean ... ORPHA:90041
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipodystrophy,... ORPHA:435651
Alstrom Syndrome
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Hypothyroidism, Hyp... OMIM:203800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Silver-Russell Syndrome
Recurrent hypoglycemia, Premature adrenarche, Precocious puberty, Insulin resistance ORPHA:813
Woodhouse-Sakati Syndrome
Dystonia, Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased serum est... ORPHA:3464
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Bardet-Biedl Syndrome 1
Gait imbalance, Insulin resistance, Hypogonadism, Ataxia, Nephrogenic diabetes insipidus, Diabete... OMIM:209900
Whipple Disease
Ataxia, Hypothyroidism, Insulin resistance ORPHA:3452
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, H... ORPHA:95717
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Werner Syndrome
Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Hypogonadism, Li... ORPHA:902
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Delayed puberty,... OMIM:176270
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Morm Syndrome
Hyperactivity ORPHA:75858
Leprechaunism
Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Reduced subcutaneous adipose ti... ORPHA:508
Monosomy 13Q34
Insulin resistance ORPHA:96168
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Familial Thyroid Dyshormonogenesis
Lethargy, Congenital hypothyroidism, Goiter, Hypothermia, Increased radioactive iodine uptake, De... ORPHA:95716
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:608594
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Ataxia, Hypoglycemia OMIM:220111
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:269700
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Spontaneous Periodic Hypothermia
Gait disturbance, Ataxia, Hypothermia ORPHA:29822
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Decreased response to growth horm... ORPHA:96182
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia OMIM:245400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Aromatase Deficiency
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance ORPHA:91
Short Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Lipodystrophy, Lipoatrophy OMIM:269880
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hypothermia, Lethargy ORPHA:159
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Insulin resistance, Dia... ORPHA:358
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Diabetes mellitus, Reduced subcutaneous adipose tissue OMIM:609069
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Attention deficit hyperactivit... ORPHA:449291
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Gait disturbance, Insulin resistance, Second... ORPHA:273
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
Bloom Syndrome
Adipose tissue loss, Diabetes mellitus, Insulin resistance ORPHA:125
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypoglycemia, Inappropriate antidiuretic hormone secretion, Hypothermia, Thyroid hypopl... ORPHA:226307
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Genetic Transient Congenital Hypothyroidism
Goiter, Hypothermia, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thy... ORPHA:226316
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia ORPHA:2126
Primary Erythromelalgia
Hypothermia ORPHA:90026
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Hypothermia, Thyr... ORPHA:90673
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Neonatal hypoglycemia ORPHA:457485
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Lethargy ORPHA:391673
Atypical Werner Syndrome
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... ORPHA:79474
Tenorio Syndrome
Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Graves Disease, Susceptibility To, 1
Hyperactivity, Graves disease, Goiter OMIM:275000
Permanent Congenital Hypothyroidism
Hypothermia, Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Broad-based gait OMIM:300958
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hypothermia OMIM:251880
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
X-Linked Adrenoleukodystrophy
Gait disturbance, Adrenal insufficiency, Hyperactivity, Abnormality of adrenal physiology, Attent... ORPHA:43
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Hypothermia, Goiter, Decreased circulating T4 level, Elevated circulat... ORPHA:226313
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Hypothermia, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-st... ORPHA:90674
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Turner Syndrome Due To Structural X Chromosome Anomalies
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:99413
Turner Syndrome
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:881
Mosaic Monosomy X
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:99228
Monosomy X
Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... ORPHA:99226
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... ORPHA:91500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypothermia, Lethargy ORPHA:26793
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Shuffling gait, Decreased serum leptin, Pubertal... ORPHA:740
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Recurrent hypoglycemia, Ataxia, Nonketotic hypoglycemia, Lethargy ORPHA:20
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability to walk, Mal... ORPHA:139396
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Glycosuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... ORPHA:99885
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypothermia OMIM:618329
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Increased serum testosterone level, Incr... ORPHA:8
Pediatric-Onset Graves Disease
Increased circulating T4 level, Goiter, Hyperactivity, Thyrotoxicosis with diffuse goiter, Graves... ORPHA:525731
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... ORPHA:280651
Alexander Disease
Gait disturbance, Hypothermia, Ataxia, Diabetes mellitus, Hypothyroidism, Precocious puberty ORPHA:58
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:99819
Dend Syndrome
Hyperglycemia ORPHA:79134
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:424
Brain-Lung-Thyroid Syndrome
Dystonia, Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Falls, Elevated ci... ORPHA:209905
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Hypothermia, Thyroid hypoplasia, Elevated cir... OMIM:218700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hypoglycemia, Hypothermia, Lethargy ORPHA:79282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Unsteady gait, Dystonia, Hypoglycemia, Hypothermia ORPHA:17
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hypothermia, Hyperglycemia, Premature adrenarche, Abnormality of the hypo... ORPHA:293987
Pmm2-Cdg
Insulin resistance, Hypogonadotropic hypogonadism, Lipodystrophy, Abnormal subcutaneous fat tissu... ORPHA:79318
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Hyperactivity, Pituitary adenoma, Diabetes mellitus ORPHA:96149
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Multiple lipomas ORPHA:137605
Menkes Disease
Hypoglycemia, Hypothermia ORPHA:565
Alström Syndrome
Precocious puberty in females, Type II diabetes mellitus, Insulin resistance, Dorsocervical fat p... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Histidinemia
Hyperactivity ORPHA:2157
Marburg Hemorrhagic Fever
Hypoglycemia, Hypothermia, Lethargy ORPHA:99826
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756

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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