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

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 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, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Diabetic ketoacidosis, Diabetes mellitus, In... OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Hyperglycemia OMIM:604484
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Hyperglycemia, Type II diabetes m... OMIM:604367
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious pub... OMIM:246200
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Short stature, Hyperglycemia, Diabeti... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy,... ORPHA:465508
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Combined Oxidative Phosphorylation Deficiency 54
Primary amenorrhea, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Hyperglycemia,... OMIM:609069
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Pelizaeus-Merzbacher Disease
Short stature, Reduction of oligodendroglia OMIM:312080
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation OMIM:615986
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
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
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Intrauterine gro... ORPHA:99885
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Severe postnatal growth retardation, Cholestasis, Portal hypertension,... ORPHA:440713
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Short Syndrome
Hyperglycemia, Ovarian cyst, Birth length less than 3rd percentile, Intrauterine growth retardati... OMIM:269880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Short stature ORPHA:2089
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Severe postnatal growth retardation, En... ORPHA:769
Pancreatic Agenesis 1
Intrauterine growth retardation, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancre... OMIM:260370
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Pol... OMIM:151660
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hypoglycemia, Hyperglycemia OMIM:615453
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Glycogen Storage Disease Ixc
Postnatal growth retardation, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic gl... OMIM:613027
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Growth delay, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes me... OMIM:608612
Campomelia, Cumming Type
Short stature, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Growth ... OMIM:248370
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Hepatic steatosis, Amyotrophic lateral sclerosis, Short stature ORPHA:52430
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hyperinsulinemia, Chronic ac... OMIM:203800
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Gliosis, Cholestasis, Neonata... OMIM:124000
Progressive Non-Fluent Aphasia
Astrocytosis, Abnormal lower motor neuron morphology ORPHA:100070
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Pancr... ORPHA:103918
Pyruvate Carboxylase Deficiency
Hepatomegaly, Basal ganglia gliosis, Growth delay, Hyperglycemia, Hypoglycemia, Cerebellar gliosis ORPHA:3008
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Gliosis, Abnormal lower motor neuron morphology ORPHA:275872
Fanconi-Bickel Syndrome
Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glyco... OMIM:227810
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... ORPHA:64744
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism... OMIM:616113
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Cole Disease
Hyperglycemia OMIM:615522
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis OMIM:221770
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Intrauterine gr... 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
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal mesentery morphology, Abnormality of the spleen ORPHA:93941
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m... OMIM:600001
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Leprechaunism
Postnatal growth retardation, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Severe intrau... ORPHA:508
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Decreased circulating gonadotropin concentration, Hypogon... OMIM:215470
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
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
Dend Syndrome
Hyperglycemia ORPHA:79134
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Hepatomegaly, Hypothyroidism, Short stature, Exocr... OMIM:616263
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Atypical Werner Syndrome
Premature ovarian insufficiency, Hyperinsulinemia, Ovarian neoplasm, Secondary amenorrhea, Abnorm... ORPHA:79474
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperglycemia, Priapism ORPHA:466677
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology ORPHA:1145
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia OMIM:620423
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... OMIM:602433
Nephronophthisis 13
Growth delay, Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Feingold Syndrome
Short stature, Annular pancreas, Abnormality of the spleen ORPHA:1305
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Short stature ORPHA:444077
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Gliosis, Hyperglycemia, Hypoglycemia, Increased hepatocellular ... OMIM:220111
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... ORPHA:449432
Shwachman-Diamond Syndrome 2
Short stature, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:617941
Glycogen Storage Disease Ib
Delayed puberty, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Short stature, Splenomegal... OMIM:232220
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy ORPHA:35689
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Short stature, Exocrine pancreatic insufficiency, Intrauterine growth re... OMIM:617052
Multiple Endocrine Neoplasia Type 4
Parathyroid carcinoma, Testicular neoplasm, Pituitary growth hormone cell adenoma, Abnormality of... ORPHA:276152
Bardet-Biedl Syndrome
Impaired fasting glucose, Hypoplasia of the ovary, Infertility, Polycystic ovaries, Decreased tes... ORPHA:110
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology ORPHA:1190
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Mesomelic/rhizomelic limb shortening, Short stature, Intrauterine growth... OMIM:605039
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Short stature, Hepatic fibrosis, Pan... OMIM:208500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Pancreatic fibrosis OMIM:615503
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Spinocerebellar tract degeneration, Abnormal lower motor neu... 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
Hepatomegaly, Periportal fibrosis, Portal hypertension, Neonatal death, Splenomegaly, Hepatic cys... OMIM:263200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Pearson Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hepatomegaly... ORPHA:699
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Short stature OMIM:601162
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Rhizomelia OMIM:618162
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Intrauterine growth retardation, Annular pancreas, Short stature ORPHA:488642
17Q12 Microdeletion Syndrome
Short stature, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Pancreatic aplasia, Growth delay, Neonatal death, Exocrine pancreatic insufficiency, Absent gallb... OMIM:618500
Pearson Marrow-Pancreas Syndrome
Macronodular cirrhosis, Pancreatic fibrosis, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:557000
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Jacobsen Syndrome
Intrauterine growth retardation, Annular pancreas, Cryptorchidism OMIM:147791
Bohring-Opitz Syndrome
Intrauterine growth retardation, Annular pancreas, Cholelithiasis, Short stature ORPHA:97297
Distal Deletion 12Q
Annular pancreas, Biliary atresia, Unilateral cryptorchidism, Short stature, Growth delay, Pituit... ORPHA:96149
Meckel Syndrome
Accessory spleen, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Cystic liver disease, Pa... ORPHA:564
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic atrophy, Pancreatic hypo... OMIM:137920
Rothmund-Thomson Syndrome, Type 2
Short stature, Annular pancreas, Cryptorchidism OMIM:268400
Fanconi Anemia, Complementation Group D2
Short stature, Annular pancreas, Cryptorchidism OMIM:227646
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Annular pancreas, Cryptorchidism, Short stature OMIM:616975
Beckwith-Wiedemann Syndrome
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Hypothyroidism, Exocrine pa... ORPHA:116
Jacobsen Syndrome
Annular pancreas, Short stature, Growth delay, Intrauterine growth retardation, Cryptorchidism ORPHA:2308
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord, Inapp... ORPHA:79139
Fryns Syndrome
Ectopic pancreatic tissue, Stillbirth, Cryptorchidism, Polysplenia OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hypertension, Biliary hyperplasia... ORPHA:731
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pheochromocytoma, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
1P36 Deletion Syndrome
Annular pancreas, Hypothyroidism, Short stature, Abnormality of the spleen, Abnormality of the li... ORPHA:1606
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Congenit... ORPHA:2255
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Neonatal death, Asplenia OMIM:265380
Schinzel-Giedion Syndrome
Hepatoblastoma, Annular pancreas, Streak ovary, Central hypothyroidism 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.

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
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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