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Gene: Itprid2 MGI:1917849

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ITPR interacting domain containing 2
Synonyms:
KRAP,  Ssfa2,  CS-1,  SPAG13,  CS1

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 Itprid2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itprid2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly... ORPHA:99886
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314802
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Proximal muscle weakness in lower limbs, Proxima... ORPHA:435660
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair OMIM:620195
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... ORPHA:276575
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Elevated cir... ORPHA:171706
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Hypoglycemia, Decrease... ORPHA:453533
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... ORPHA:280356
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... ORPHA:280365
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ge... OMIM:608594
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... OMIM:606407
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Lipoatrophy,... ORPHA:79084
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced subcutaneou... ORPHA:363400
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Generalized muscular a... OMIM:269700
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroid... ORPHA:261229
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Schaaf-Yang Syndrome
Hypogonadism, Inability to walk, Failure to thrive in infancy, Obesity, Thick eyebrow, Polyphagia... OMIM:615547
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia, Short stature, Hypopigmentation of hair ORPHA:177910
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... OMIM:617872
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Gait... ORPHA:399
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia OMIM:610947
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia, Hypopigment... ORPHA:411515
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Polydipsia, Failure to t... ORPHA:525731
Tenorio Syndrome
Macroglossia, Hypoglycemia, Hypertrichosis, Thick eyebrow, Gait disturbance, Hypoinsulinemia OMIM:616260
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, F... ORPHA:35878
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Skeletal muscle atrophy, Hypert... OMIM:246200
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Joubert Syndrome 10
Frequent temper tantrums, Obesity, Dysmetria, Decreased body weight, Hirsutism, Polyphagia, Short... OMIM:300804
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Growth delay, Generalized hirsutism, Polyphagia, ... ORPHA:228402
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Fail... ORPHA:398069
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Class III obesity, Decreased muscle mass, Decreased ... OMIM:176270
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth retardation, ... ORPHA:73272
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Broad-based gait, Obesity, Thick eyebrow, Polyphagia ORPHA:171829
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Hypotonia-Cystinuria Syndrome
Polyphagia, Growth delay, Failure to thrive ORPHA:163690
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Intellectual Developmental Disorder, Autosomal Dominant 72
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Facial hypotonia OMIM:620439
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Postn... ORPHA:54595
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decre... OMIM:608612
Rett Syndrome
Growth delay, Failure to thrive, Skeletal muscle atrophy, Increased serum leptin, Difficulty walk... ORPHA:778
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Gait imba... ORPHA:79239
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Fair hair, Inability to... ORPHA:72
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp... OMIM:616113
Cebalid Syndrome
Polyphagia, Thick eyebrow, Highly arched eyebrow, Congenital diaphragmatic hernia OMIM:618774
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Man1B1-Cdg
Broad-based gait, Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Tr... ORPHA:397941
Trisomy 18P
Highly arched eyebrow, Intrauterine growth retardation, Polyphagia, Attention deficit hyperactivi... ORPHA:1715
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circu... OMIM:615363
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Growth delay, Glycosuria, Failure to thrive, Elevate... ORPHA:2088
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Inguinal hernia, Att... ORPHA:397590
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Short stature ORPHA:251004
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, General... ORPHA:79474
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Elevated circulating hepatic transaminase concentr... ORPHA:293987
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Highly arched eyebrow, Bruxism, Inappropriate laughter, Postnatal growth... OMIM:156200
Luscan-Lumish Syndrome
High anterior hairline, Obesity, Hirsutism, Polyphagia, Aggressive behavior, Short stature OMIM:616831
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... ORPHA:199299
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Skeletal muscle atrophy, Increased circulating... OMIM:219090
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Lipodystrophy, Familial Partial, Type 7
Lower limb muscle weakness, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tis... OMIM:606721
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ... OMIM:256810
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Severe sh... OMIM:617253
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... OMIM:614921
Acute Adrenal Insufficiency
Failure to thrive, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar... ORPHA:95409
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Growth delay, Horizontal eyebrow, Sparse anterior scalp hair, Obesity, L... ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Intrauterine growth retardation, Decreased liver function, ... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Intrauterine growth retardation, Decreased liver function, ... OMIM:618839
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Growth delay, Failure to thrive, Sparse scalp hair, Nail dystrophy, Spa... OMIM:614008
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren... ORPHA:85138
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... ORPHA:508
Adnp Syndrome
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Umbilical hernia, In... ORPHA:404448
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Broad-based gait, Fine hair, Postnatal growth retardation, Self-mutilation, Polyphag... ORPHA:251028
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Horizontal eyebrow, Camptodactyly o... ORPHA:1606
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Failure to thrive, Decreased response to growth hormone stimulation test,... OMIM:615873
Weaver Syndrome
Joint contracture of the hand, Fine hair, Umbilical hernia, Diastasis recti, Inguinal hernia, Pol... OMIM:277590
Alström Syndrome
Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Ty... ORPHA:64
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Decreased mu... OMIM:232200
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypoglycemia, Decrea... ORPHA:90695
Chromosome 1P36 Deletion Syndrome, Distal
Growth delay, Horizontal eyebrow, Camptodactyly of finger, Congenital hypothyroidism, Obesity, Op... OMIM:607872
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Shuffling gait, Dystrophic toenail, Delayed menarche, Alopecia totalis, Absen... ORPHA:740
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Umbilical hernia, Hair-pulling, Pol... OMIM:620330

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 Itprid2

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 Itprid2.

No publications found that use IMPC mice or data for Itprid2.

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MGI Allele Allele Type Produced
Itprid2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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