banner
Genes Phenotypes Help, News, Blog

Gene: Itprid2 MGI:1917849

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:
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
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinem... ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Abnormality of body weight, Hypoglyc... ORPHA:314811
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor... ORPHA:171706
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Red hair, Hepatic steatosis OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast... ORPHA:276575
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314802
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Increased intraabdominal fat, Hepatic steatosis, Generalized hirsutism... ORPHA:280365
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Hypoglycemia, Pos... ORPHA:453533
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Leptin Deficiency Or Dysfunction
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short stature, Low anterior hairline, Delayed thelarche... OMIM:616033
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... ORPHA:35878
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactiv... ORPHA:261229
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Postnatal growth retardation, H... OMIM:246200
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant dia... OMIM:262190
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism, Obesity, Large for gestational age OMIM:617119
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Polyphagia ORPHA:177910
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Impulsivity, Inability to walk, Flexion contracture,... OMIM:615547
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hypoglycemia, Hepa... ORPHA:369
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsul... ORPHA:79237
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellit... ORPHA:3085
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Addictive alcohol... ORPHA:399
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Centrally nucle... OMIM:613327
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Obesity, Inappropriate laughte... ORPHA:411515
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Rett Syndrome
Skeletal muscle atrophy, Inability to walk, Agitation, Cholecystitis, Increased serum leptin, Gai... ORPHA:778
Tenorio Syndrome
Hypoglycemia, Macroglossia, Gait disturbance, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Bangstad Syndrome
Ataxia, Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulat... ORPHA:1227
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Short stature, Hypoglycemia ORPHA:366
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Short st... ORPHA:398069
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Short stature, Highly arched eyebrow, Abnormal repetitive mannerisms, Syno... ORPHA:228402
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardati... ORPHA:73272
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity, Abnormal temper tantrums, Polyphagia, Thick eyebrow ORPHA:171829
Prader-Willi Syndrome
Hypopigmentation of hair, Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased respons... OMIM:176270
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Short stature, Decreased response to growth hormone ... ORPHA:739
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Secondary Short Bowel Syndrome
Cholestasis, Central hypothyroidism, Weight loss, Growth delay, Primary hypothyroidism, Steatorrh... ORPHA:95427
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... ORPHA:189427
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ataxia... ORPHA:79239
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypog... OMIM:602579
2P21 Microdeletion Syndrome
Hypoglycemia, Growth delay, Long eyelashes, Hypogonadism, Failure to thrive ORPHA:163693
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Short stature, Postnatal gr... OMIM:616113
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Angelman Syndrome
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Fair hair, Aggressive beh... ORPHA:72
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Increased circ... ORPHA:71212
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... ORPHA:785
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... OMIM:613986
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Man1B1-Cdg
Broad-based gait, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity... ORPHA:397941
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... ORPHA:69076
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... ORPHA:2088
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Hypoglycemia, Cache... ORPHA:42
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Trisomy 18P
Short stature, Facial palsy, Highly arched eyebrow, Attention deficit hyperactivity disorder, Int... ORPHA:1715
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Facial hypertrichosis, Skeletal muscle atrophy... ORPHA:508
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased muscle glycogen ... OMIM:261750
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Short... ORPHA:264580
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Attention... ORPHA:397590
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia ORPHA:251004
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Short stature, Decreased serum leptin, Sparse eyelashes... OMIM:614008
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Short stature, Decreased response to growth hormone stimulation te... ORPHA:293987
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, ... OMIM:156200
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Obesity, High anterior hairline, Polyphagia, Hirsutism OMIM:616831
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Decreased circu... ORPHA:199299
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Short stature, Hypoglycemia, Adrenal hypoplasia, ... ORPHA:95496
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Sparse hair, Lower ... OMIM:606721
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Larg... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... OMIM:256810
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate amino... OMIM:617253
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... OMIM:614921
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Anorexia, S... ORPHA:95409
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACT... OMIM:219090
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Decreased li... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Decreased li... OMIM:618839
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Ag... ORPHA:96121
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... ORPHA:85138
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Intrauterine growth retardation, Failure t... ORPHA:2609
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Postnatal growth retardation, Fine hair, Spa... ORPHA:251028
Adnp Syndrome
Sparse scalp hair, Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia... ORPHA:404448
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
1P36 Deletion Syndrome
Hepatic steatosis, Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Abnormali... ORPHA:1606
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Failure to thriv... OMIM:618005
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Facial palsy... OMIM:615873
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J... OMIM:617049
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Hypoglycemia, ... OMIM:232200
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Weaver Syndrome
Inguinal hernia, Diastasis recti, Fine hair, Camptodactyly, Sparse hair, Umbilical hernia, Joint ... OMIM:277590
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d... ORPHA:273
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Short stature, Hypogl... OMIM:307030
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:99228
Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:99226
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Hypoglycemia, He... OMIM:232220
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem... OMIM:276700
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Abnormality of the hairline, Aggressive behavior, Synophrys, Polyphagia,... OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... OMIM:619991
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... ORPHA:79318

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.

Order Mouse and ES Cells

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

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