banner
Genes Phenotypes Help, News, Blog

Gene: Nkx6-1 MGI:1206039

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:
NK6 homeobox 1
Synonyms:
Nkx6.1,  NKX6A

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 Nkx6-1 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 Nkx6-1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
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
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Butyrylcholinesterase Deficiency
Abnormality of the liver, Paralysis ORPHA:132
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Horner Syndrome, Congenital
Paralysis OMIM:143000
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy, Vocal cord paralysis OMIM:616287
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
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
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death OMIM:611890
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Variegate Porphyria
Paralysis OMIM:176200
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Goiter, Periodic paralysis OMIM:613239
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Periodic paralysis OMIM:188580
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Snakebite Envenomation
Hypopituitarism, Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Glioblastoma
Paralysis ORPHA:360
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Death in infancy, Cerebral palsy, Death in early adulthood, Hype... ORPHA:682
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Porphyria, Acute Intermittent
Hepatocellular carcinoma, Respiratory paralysis, Paralysis OMIM:176000
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Paralysis ORPHA:83601
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Death in childhood, Tongue fasciculations... OMIM:211530
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Vocal cord pa... ORPHA:64744
Inhalational Botulism
Paralysis ORPHA:254504
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... ORPHA:79139
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Anaplastic Thyroid Carcinoma
Nodular goiter, Vocal cord paralysis, Goiter ORPHA:142
Rift Valley Fever
Miscarriage, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma OMIM:605373
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Ataxia, Paralysis, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundi... OMIM:203700
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Pheochromocytoma/Paraganglioma Syndrome 1
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma OMIM:168000
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations ORPHA:297
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, Limb ataxia, Hepatospleno... ORPHA:2072
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Tyrosinemia, Type I
Hepatomegaly, Periodic paralysis, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hep... OMIM:276700
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Pineoblastoma
Pinealoma, Paralysis ORPHA:251909
African Trypanosomiasis
Hepatomegaly, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Tre... ORPHA:3385
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Hepatosplenomegaly OMIM:259730
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Tremor, Increased ci... ORPHA:91347
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Paralysis ORPHA:358
Distal Renal Tubular Acidosis
Paralysis ORPHA:18

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 Nkx6-1

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 Nkx6-1.

No publications found that use IMPC mice or data for Nkx6-1.

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
Nkx6-1tm257038(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter