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Gene: Nkx2-2 MGI:97347

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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:
NK2 homeobox 2
Synonyms:
Nkx-2.2,  Nkx2.2,  tinman

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 Nkx2-2 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 Nkx2-2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, In... OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gliosis, Degeneration of anterior horn cells OMIM:604484
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Insuli... OMIM:604367
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Intrauterine growth retardation OMIM:601410
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Donohue Syndrome
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Postprandial hyperglycemia, Cholestasis, ... OMIM:246200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Hypoglycemia, Postpra... OMIM:262190
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... OMIM:615710
Essential Fructosuria
Hyperglycemia ORPHA:2056
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Short stature ORPHA:329249
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... OMIM:615925
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dysfunction, Testi... ORPHA:465508
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Postnatal growth retardation OMIM:232700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level, Gliosis OMIM:125700
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Intrauterine growth retardation OMIM:606176
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Severe intrauterine g... OMIM:609069
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or... ORPHA:69076
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Short stature OMIM:312080
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation OMIM:615986
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Biliary cirrhosis, Increased serum testosterone level, Fasting hypoglycemia, En... ORPHA:2298
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, C... OMIM:611890
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... ORPHA:139507
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... ORPHA:2088
Short Syndrome
Birth length less than 3rd percentile, Insulin resistance, Insulin-resistant diabetes mellitus, I... OMIM:269880
Isolated Sedoheptulokinase Deficiency
Short stature, Hepatitis, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Por... ORPHA:440713
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... ORPHA:99885
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Short stature, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism ORPHA:2849
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Short stature, Impaired g... ORPHA:769
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Intrauterine growth retardation, Exocrine pancreatic i... OMIM:260370
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct atresia, Annular ... OMIM:601346
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis OMIM:167800
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... OMIM:151660
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Growth dela... OMIM:613027
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Gliosis OMIM:615119
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis OMIM:105550
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Growth delay, Hepatomegaly, Insulin-resistant diabe... OMIM:248370
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Growth delay OMIM:615453
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Growth delay, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intol... OMIM:608612
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Hypoglycem... OMIM:124000
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Short stature OMIM:211890
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Short stature ORPHA:52430
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... ORPHA:103918
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Cerebellar gliosis, Hypoglycemia, Growth delay, Hepatomegaly, Hyperglycemia ORPHA:3008
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Hepatomegaly ORPHA:134
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Hyperech... OMIM:208540
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Gliosis ORPHA:275872
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:615935
Cole Disease
Hyperglycemia OMIM:615522
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Hypergonadotropic hypogonadism OMIM:613724
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Igg4-Related Thyroid Disease
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... ORPHA:64744
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis OMIM:221770
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Cryptorchidism,... ORPHA:2470
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Mild postnatal growth retardation, Delayed pu... ORPHA:456312
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormality of mesentery morph... ORPHA:93941
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged ovaries, Insulin resistanc... ORPHA:508
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Glycosuria, Diabetes mellitus, Hyperg... OMIM:600001
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Abnormal upper motor neuron morphology, Decreased circulating gona... OMIM:215470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Gliosis, Hepatomegaly, Neonatal death, Hep... OMIM:231680
Atypical Werner Syndrome
Decreased fertility, Hyperinsulinemia, Abnormal testis morphology, Secondary amenorrhea, Glycosur... ORPHA:79474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic fibrosis, Short stature, Hepatic steatosis, Delayed puberty, Pancreatic f... OMIM:616263
Scorpion Envenomation
Hyperglycemia, Acute pancreatitis, Priapism, Glycosuria ORPHA:466677
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... ORPHA:293987
Dend Syndrome
Hyperglycemia ORPHA:79134
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Cryptorchidism ORPHA:1145
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... ORPHA:35689
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Feingold Syndrome
Abnormality of the spleen, Short stature, Annular pancreas ORPHA:1305
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Growth delay, Intrahepatic bile duct dilatation OMIM:614377
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature ORPHA:444077
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Gliosis, Hyperglycemia, Increased hepatocellular ... OMIM:220111
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Cholangitis, Abnormality of the ... ORPHA:449432
Glycogen Storage Disease Ib
Splenomegaly, Short stature, Hepatocellular carcinoma, Delayed puberty, Pancreatic fibrosis, Hepa... OMIM:232220
Aceruloplasminemia
Cirrhosis, Hepatic fibrosis, Abnormal pancreas morphology, Elevated hepatic iron concentration ORPHA:48818
Multiple Endocrine Neoplasia Type 4
Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Increased ci... ORPHA:276152
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... ORPHA:79102
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Short stature, Hyperechogenic pancreas, Hepatomegaly OMIM:617941
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Short stature, Jaundice, Polycystic liver disease, Bile duct ... OMIM:208500
Bohring-Opitz Syndrome
Mesomelic/rhizomelic limb shortening, Short stature, Supernumerary nipple, Hyperechogenic pancrea... OMIM:605039
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Rhizomelia, Neonatal short-trunk short stature ORPHA:1190
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Short stature OMIM:615503
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Spinocerebellar tract degenerat... ORPHA:276244
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Hepatomegaly, Hepatic cysts, Portal hype... OMIM:263200
Pearson Syndrome
Hypothyroidism, Abnormality of the liver, Decreased response to growth hormone stimulation test, ... ORPHA:699
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Short stature OMIM:601162
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas,... ORPHA:93111
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... OMIM:267010
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas OMIM:618162
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Intrauterine growth retardation, Short stature, Annular pancreas ORPHA:488642
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Pancreatic aplasia, Growth delay, Exocrine pancreatic insufficiency, Neonatal... OMIM:618500
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Short stature, Cryptorchidism ORPHA:261265
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancreatic fibrosis, Macronodular cirrhosis, Hepatomegaly OMIM:557000
Jacobsen Syndrome
Annular pancreas, Intrauterine growth retardation, Cryptorchidism OMIM:147791
Bohring-Opitz Syndrome
Intrauterine growth retardation, Cholelithiasis, Short stature, Annular pancreas ORPHA:97297
Meckel Syndrome
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... ORPHA:564
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Short stature, Cryptorchidism OMIM:268400
Distal Monosomy 12Q
Biliary atresia, Short stature, Pituitary adenoma, Unilateral cryptorchidism, Growth delay, Annul... ORPHA:96149
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Fanconi Anemia, Complementation Group D2
Annular pancreas, Short stature, Cryptorchidism OMIM:227646
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Intrauterine growth retardation, Short stature, Cryptorchidism OMIM:616975
Beckwith-Wiedemann Syndrome
Hypothyroidism, Hepatoblastoma, Pseudohypoparathyroidism, Hepatomegaly, Cryptorchidism, Exocrine ... ORPHA:116
Jacobsen Syndrome
Short stature, Growth delay, Cryptorchidism, Annular pancreas, Intrauterine growth retardation ORPHA:2308
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord, Inapp... ORPHA:79139
Feingold Syndrome 1
Asplenia, Polysplenia, Accessory spleen, Annular pancreas OMIM:164280
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Trisomy 8P
Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:264450
Fryns Syndrome
Polysplenia, Ectopic pancreatic tissue, Stillbirth, Cryptorchidism OMIM:229850
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Hepatic hemangioma, Pheochromocytoma OMIM:193300
1P36 Deletion Syndrome
Hypothyroidism, Abnormality of the liver, Short stature, Hepatic steatosis, Cryptorchidism, Annul... ORPHA:1606
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Neonatal death, Annular pancreas OMIM:265380
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancreatic aplasia... ORPHA:2255
Schinzel-Giedion Syndrome
Central hypothyroidism, Streak ovary, Hepatoblastoma, Annular pancreas ORPHA:798

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 Nkx2-2

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 Nkx2-2.

No publications found that use IMPC mice or data for Nkx2-2.

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MGI Allele Allele Type Produced
Nkx2-2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nkx2-2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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