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Gene: Hmgn1 MGI:96120

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Gene Summary

Name:
high mobility group nucleosomal binding domain 1
Synonyms:
Hmg14,  HMG-14

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Hmgn1em1(IMPC)Ics HOM Early adult 2.14×10-05
decreased mean corpuscular volume Hmgn1em1(IMPC)Ics HOM Early adult 9.52×10-05
decreased circulating creatinine level Hmgn1em1(IMPC)Ics HOM Early adult 8.20×10-05
decreased lean body mass Hmgn1em1(IMPC)Ics HOM Early adult 9.70×10-05
decreased food intake Hmgn1em1(IMPC)Ics HOM Early adult 1.37×10-06

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Hmgn1 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 Hmgn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Retroperitoneal chemodectomas, Cutaneous angiolipomas, Chemodectoma OMIM:118350
Paragangliomas 1
Vagal paraganglioma, Elevated circulating catecholamine level, Glomus jugular tumor, Adrenal pheo... OMIM:168000
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Paragangliomas 3
Elevated circulating catecholamine level, Glomus jugular tumor, Adrenal pheochromocytoma, Chemode... OMIM:605373
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Medullary Thyroid Carcinoma
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Neoplasm of the lung, Medullary thyroid ca... ORPHA:1332
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Meningioma, Increased circulating cortisol level, Insulinoma, Inc... ORPHA:652
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Myxoid subcuta... OMIM:160980
Paragangliomas 5
Paraganglioma OMIM:614165
Paragangliomas 4
Renal cell carcinoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemodectoma, Extraadrenal ... OMIM:115310
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti... OMIM:171400
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Hepatic hemangioma, Renal cell carcinoma, Cerebellar hemangi... OMIM:193300
Grfoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97261
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... OMIM:261000
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Renal cell carcinoma, Elevated calcitonin, Adrenal pheochromocytoma, E... ORPHA:29072
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Cranial nerve compression, Paraganglioma... ORPHA:276621
Phakomatosis Pigmentokeratotica
Hemangioma, Cryptorchidism, Cutaneous melanoma, Renal transitional cell carcinoma, Pheochromocyto... ORPHA:2874
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Paragangliomas 2
Neoplasm, Vagal paraganglioma, Glomus jugular tumor, Chemodectoma, Glomus tympanicum paraganglioma OMIM:601650
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Neurofibromatosis, Type I
Spinal neurofibroma, Optic nerve glioma, Meningioma, Pheochromocytoma, Astrocytoma, Plexiform neu... OMIM:162200
Laryngeal Neuroendocrine Tumor
Inappropriate antidiuretic hormone secretion, Elevated calcitonin, Increased serum serotonin, Adr... ORPHA:100083
Neurofibromatosis Type 1
Delayed puberty, Neoplasm, Spinal neurofibroma, Cryptorchidism, Ataxia, Precocious puberty, Menin... ORPHA:636
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Melanoma-Pancreatic Cancer Syndrome
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Multiple Endocrine Neoplasia Type 2
Neuroma, Thyroid C cell hyperplasia, Neoplasm of the liver, Elevated calcitonin, Elevated circula... ORPHA:653
Tuberous Sclerosis Complex
Angiofibromas, Renal cell carcinoma, Retinal astrocytic hamartoma, Pancreatic endocrine tumor, Re... ORPHA:805
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Pheochromocytoma
Hemangioma, Pheochromocytoma, Neoplasm OMIM:171300
Multiple Endocrine Neoplasia, Type Iib
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Parathyroid hyperplasia, Medullary thyroid... OMIM:162300
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Increased circulating cortisol level, Malignant gastrointestinal tract tumors,... ORPHA:99889
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Maffucci Syndrome
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... ORPHA:163634
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... ORPHA:90044
Paragangliomas 6
Paraganglioma, Elevated circulating catecholamine level OMIM:618464
17Q11 Microdeletion Syndrome
Delayed puberty, Elevated circulating parathyroid hormone level, Glomus jugular tumor, Gastrointe... ORPHA:97685
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... ORPHA:97289
Multiple Endocrine Neoplasia, Type I
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adenoma seba... OMIM:131100
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu... OMIM:617872
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Failure to thrive OMIM:617744
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia, Anemia OMIM:617056
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Von Hippel-Lindau Disease
Renal cell carcinoma, Pancreatic endocrine tumor, Cerebellar hemangioblastoma, Elevated circulati... ORPHA:892
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Multiple Endocrine Neoplasia, Type Iv
Elevated circulating growth hormone concentration, Carcinoma, Pancreatic endocrine tumor, Renal a... OMIM:610755
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Ollier Disease
Hemangioma, Neoplasm, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Chond... ORPHA:296
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplasm, Multiple myeloma, N... ORPHA:79140
Insulinoma
Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Abnormality of the pancreatic islet c... ORPHA:97279
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volum... OMIM:617021
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... OMIM:185000
Preeclampsia
Small for gestational age, Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Carcinoid Syndrome
Small intestine carcinoid, Pulmonary carcinoid tumor, Increased serum serotonin, Paraganglioma, C... ORPHA:100093
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Increased circulating... OMIM:610600
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Elevated circulating creatinine concentration OMIM:616733
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:90793
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Decreased circulating... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Decreased circulating... ORPHA:556030
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Zollinger-... ORPHA:438274
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Anemia OMIM:620366
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hyperaldosteronism, Diabetes mellitus, Incre... ORPHA:1501
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Anemia, Failure to thrive, Thrombocytopenia, Elevated circulating creatinine conce... OMIM:608104
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... OMIM:175100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Facial palsy, Carcinoid tumor ORPHA:100084
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, ... OMIM:277410
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive OMIM:612561
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Benign neoplasm of the cen... ORPHA:2591
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration, Anemia OMIM:266900
Zollinger-Ellison Syndrome
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adrenocortic... ORPHA:913
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume, Hyperhomocystinemia, Pan... ORPHA:2169
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Sarcoma ORPHA:626
Bone Marrow Failure Syndrome 3
Hyperactivity, Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Amelogenesis im... OMIM:617052
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s... OMIM:618885
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Renal cell carcinoma, Abnormal response to corticotropin releasing hormone st... ORPHA:189427
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Neoplasm of the lung, Ovarian neoplasm, Neoplasm of the central nervous... ORPHA:83469
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:95699
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Thymic Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Fatigable weakness ORPHA:100100
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cutaneous myxoma, Diabetes mellitus, Increased circulating cortisol level, D... ORPHA:189439
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Werner Syndrome
Neoplasm, Melanoma, Cutaneous melanoma, Renal neoplasm, Squamous cell carcinoma, Meningioma, Hypo... ORPHA:902
Liposarcoma
Sarcoma ORPHA:69078
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Motor axonal neuropathy, Inability to walk, Sensory axonal neuropathy, Optic disc pallor, Exagger... OMIM:609541
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Diabetes mellitus, Exaggerated startle response, Hypothyroidism ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripher... ORPHA:320406
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Decreased testicular size, Cryptorchidism, Elevated circulating follicle stimula... ORPHA:90796
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Precocious puberty, Polycystic ovaries, Abnormal calcium-p... ORPHA:457059
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Yellow Nail Syndrome
Renal neoplasm, Neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Sarcoma ORPHA:662
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Reduced hematocrit, Elevated circulating c... ORPHA:79126
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... ORPHA:90038
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration OMIM:620138
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Knee flexion contracture, Elevated circulating l... OMIM:608836
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb... ORPHA:36234
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Decreased circulating apolipoprotein A-I concentration, Anemia, Decreased HDL... ORPHA:85450
Oligomeganephronia
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia, Elevated circulating crea... ORPHA:2260
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... OMIM:613095
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Failure to thrive, Polydipsia, Hypocal... ORPHA:411634
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Neoplasm of the lung, Increased serum serotonin, Carcinoid tumor, Neoplasm... ORPHA:100085
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Neoplasm of the stomach, Gastrointestinal stroma tumor, Neoplasm of the g... ORPHA:44890
Diamond-Blackfan Anemia
Small for gestational age, Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutro... ORPHA:124
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia ORPHA:261250
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Multiple Myeloma
Anemia, Hyperproteinemia, Weight loss, Splenomegaly, Hypercalcemia, Elevated circulating creatini... ORPHA:29073
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Cryptorchidism, Myeloid leukemia, Patent ductus arteriosus ORPHA:404443
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... OMIM:127550
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Hyperuricemia, Elevated circulating creatinine concentration ORPHA:79233
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Normocytic anemia, Elevated circulating creatinine concentration ORPHA:247691
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Primary hypercortisolism, Decreased circulating ACTH level,... OMIM:610475
Fanconi Anemia, Complementation Group E
Leukemia, Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism OMIM:600901
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100080
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Neuroendocrine Tumor Of Stomach
Increased circulating ACTH level, Increased serum serotonin, Paraganglioma, Carcinoid tumor, Atyp... ORPHA:100075
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Failure to thrive, Increased m... OMIM:105650
Fanconi Anemia, Complementation Group A
Leukemia, Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism OMIM:227650
Carney-Stratakis Syndrome
Paraganglioma, Gastrointestinal stroma tumor ORPHA:97286
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Insulinoma, ... ORPHA:100076
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Increased blood urea nitrogen, Elevated circulating C-reactive protein concent... ORPHA:49041
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Gait ataxia, Exaggerated startle response, Dysmetria OMIM:618056
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100082
Tay-Sachs Disease
Gait disturbance, Inability to walk, Tremor, Exaggerated startle response, Laryngeal dystonia, Op... ORPHA:845
Fanconi Anemia, Complementation Group C
Leukemia, Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism OMIM:227645
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Anemia, Agitation, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Decreased bod... ORPHA:340
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia, Hypergonadotropic hypogonadism, Paten... OMIM:227646
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk OMIM:620114
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Optic nerve hypoplasia OMIM:617864
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Biliary tract neoplasm, Neoplasm of the nervous system ORPHA:100086
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Stiff-Person Syndrome
Diabetes mellitus, Exaggerated startle response, Opisthotonus OMIM:184850
Retinoblastoma
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma OMIM:180200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Cryptorchidism, Testicular dysgenesis, Dysplastic testes OMIM:608800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hyperammonemia, Abnormal lymp... ORPHA:99826
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Lmna-Related Cardiocutaneous Progeria Syndrome
Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Pulmonary carcinoid tumor, H... ORPHA:363618
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Tricuspid Stenosis
Carcinoid tumor ORPHA:95459
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Normochromic anemia, Elevated circulating C-reactive prote... ORPHA:91500
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Cushing Disease
Adrenal hyperplasia, Increased circulating ACTH level, Fatiguable weakness of proximal limb muscl... ORPHA:96253
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Congenital hypothyroidism OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Increased mean corpuscular volu... ORPHA:97214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto... ORPHA:99829
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Elevated circulating creatinine concentration OMIM:137920
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Eosinophilia, Elevated circulating C-reactive protein co... ORPHA:449395
African Trypanosomiasis
Abnormality of circulating cortisol level, Gait disturbance, Difficulty walking, Papilledema, Abn... ORPHA:3385
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Cryptorchidism, Inability to walk, Dystonia, Abnormality of the anterior pituitary, Increased cir... ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Hyperbilirubinem... OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis OMIM:619522

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 Hmgn1

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 Hmgn1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Interplay between H1 and HMGN epigenetically regulates OLIG1&2 expression and oligodendrocyte differentiation. Nucleic acids research (April 2017) Hmgn1tm1a(EUCOMM)Hmgu PMC5389484

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hmgn1em1(IMPC)Ics Deletion Mice
Hmgn1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hmgn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hmgn1em2(IMPC)Ics Deletion Mice

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