Gene Summary

Name:
NADH:ubiquinone oxidoreductase subunit B9
Synonyms:
1190008J14Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Ndufb9tm1b(EUCOMM)Hmgu HET Early adult 3.84×10-05
decreased circulating alkaline phosphatase level Ndufb9tm1b(EUCOMM)Hmgu HET Early adult 4.72×10-05
abnormal kidney morphology Ndufb9tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Ndufb9tm1b(EUCOMM)Hmgu HOM   Early adult 0.000317
increased circulating insulin level Ndufb9tm1b(EUCOMM)Hmgu HET   Early adult 2.58×10-06

Download data as:  TSV  XLS

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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.

Electrocardiogram (ECG)

Waveform Image

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Human diseases caused by Ndufb9 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.

The table below shows human diseases associated to Ndufb9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Complex I Deficiency
Proximal tubulopathy, Increased serum pyruvate, Hypoglycemia, Diabetes mellitus ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 24
OMIM:618245

The table below shows human diseases predicted to be associated to Ndufb9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Increased C-peptide level, Exc... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Excessive insulin respons... ORPHA:276580
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Fasting hypoglycemia, Increased C-peptide level, Exc... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Neonatal hypoglycemia, Increased C-peptide level, Mu... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Excessive insulin respons... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Mody
Glycosuria, Renal cyst, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insu... ORPHA:552
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hypoplasia of penis, Hyperinsulinemia ORPHA:791
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Renal Fanconi syndrome, Fasting hypoglycemia, Hyperinsulinemia... ORPHA:263455
Insulin-Resistance Syndrome Type B
Glycosuria, Proteinuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasting hyp... ORPHA:2298
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Neonatal hypoglycemia, Decreased plasma carniti... ORPHA:71212
Perlman Syndrome
Hypoplasia of penis, Hyperinsulinemia ORPHA:2849
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia ORPHA:363400
Congenital Generalized Lipodystrophy
Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, H... ORPHA:528
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long penis, Precocious... OMIM:246200
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nephritis, Hypergonadotr... OMIM:203800
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, Gl... ORPHA:785
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Increased C-peptide level, Nephrocalcinosis, Hypothyroidism, ... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Elevated urinary dopamine, Hyperinsu... ORPHA:230
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Proteinuria, Abnormal circulating lipid concentration, Insu... ORPHA:79086
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Insulin resistance, Hypertriglyceridemia, Hyp... OMIM:613327
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypokalemia, Fasting hypoglycemia, Central hypothyroidism, Inc... ORPHA:508
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Micropenis, Decreased serum te... ORPHA:3464
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Micropenis, Decreased res... OMIM:176270
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-pept... ORPHA:2126
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglycer... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglycer... OMIM:269700
Atypical Werner Syndrome
Glycosuria, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mellitus, Fasting hyper... ORPHA:79474
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Abnormality of thyroid physiology, Fa... ORPHA:273
Turner Syndrome
Ectopic kidney, Horseshoe kidney, Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroi... ORPHA:881
Monosomy X
Ectopic kidney, Horseshoe kidney, Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroi... ORPHA:99226
Mosaic Monosomy X
Ectopic kidney, Horseshoe kidney, Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroi... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Horseshoe kidney, Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroi... ORPHA:99413
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Alström Syndrome
Functional abnormality of the bladder, Dysuria, Urinary urgency, Decreased circulating T4 level, ... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Nephrotic syndrome, Insulin resistance, Hyperinsulinemia, Proteinu... ORPHA:79318
Leukocyte Adhesion Deficiency
Glomerulonephritis, Hyperinsulinemic hypoglycemia, Hemolytic-uremic syndrome ORPHA:2968
Isolated Complex I Deficiency
Proximal tubulopathy, Increased serum pyruvate, Hypoglycemia, Diabetes mellitus ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 24
OMIM:618245

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 Ndufb9

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 Ndufb9.

No publications found that use IMPC mice or data for Ndufb9.

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MGI Allele Allele Type Produced
Ndufb9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ndufb9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ndufb9tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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