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Gene: Ndufb9 MGI:1913468

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Gene Summary

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

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
abnormal kidney morphology Ndufb9tm1b(EUCOMM)Hmgu HET Early adult 0.00
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
increased circulating insulin level Ndufb9tm1b(EUCOMM)Hmgu HET   Early adult 2.58×10-06
preweaning lethality, complete penetrance Ndufb9tm1b(EUCOMM)Hmgu HOM   Early adult 0.000317

Download data as:  TSV  XLS

Select physiological systems to view:
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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

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Electrocardiogram (ECG)

Waveform Image

36 Images

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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, Diabetes mellitus, Increased serum pyruvate, Hypoglycemia 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
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction OMIM:606528
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Abnormal ... ORPHA:280356
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Pancreatic isle... ORPHA:263455
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, In... ORPHA:79237
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Fasti... ORPHA:71212
Perlman Syndrome
Hypoplasia of penis, Hyperinsulinemia ORPHA:2849
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Renal insufficiency, Decreased circulating ... OMIM:177200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia ORPHA:363400
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... ORPHA:528
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Long penis, Hyperglycemia, Hyperinsulinemia, Panc... OMIM:246200
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia OMIM:602579
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Nephrocalcinosis, Long penis, Insulin resistance,... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stage 5 chronic kidney dise... OMIM:608612
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le... ORPHA:231625
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... OMIM:202010
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia,... ORPHA:231580
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hypertr... OMIM:613327
Alstrom Syndrome
Nephritis, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Decrease... OMIM:203800
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:151660
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Primary hyperaldosteronism, Nephrolithiasis OMIM:615474
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Nephrolithiasis, Hypertrigly... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Hypertriglyceridemia, Diabetes mellitu... OMIM:608594
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:99413
Turner Syndrome
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:881
Mosaic Monosomy X
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:99228
Monosomy X
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:99226
Liver Disease, Severe Congenital
Aminoaciduria, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hy... OMIM:619991
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Alström Syndrome
Chronic kidney disease, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabete... ORPHA:64
Pmm2-Cdg
Insulin resistance, Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:79318
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Glomerulonephritis, Hemolytic-uremic syndrome ORPHA:2968
Isolated Complex I Deficiency
Proximal tubulopathy, Diabetes mellitus, Increased serum pyruvate, Hypoglycemia 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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