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Gene: Mcu MGI:3026965

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Gene Summary

Name:
mitochondrial calcium uniporter
Synonyms:
D130073L02Rik,  2010012O16Rik,  Ccdc109a

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
decreased lean body mass Mcutm1b(EUCOMM)Hmgu HET Early adult 4.18×10-06
decreased bone mineral content Mcutm1b(EUCOMM)Hmgu HET Early adult 2.82×10-05
increased circulating cholesterol level Mcutm1b(EUCOMM)Hmgu HET   Early adult 3.21×10-05
increased total body fat amount Mcutm1b(EUCOMM)Hmgu HET Early adult 5.32×10-06
preweaning lethality, complete penetrance Mcutm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating HDL cholesterol level Mcutm1b(EUCOMM)Hmgu HET Early adult 7.40×10-06
increased fasting circulating glucose level Mcutm1b(EUCOMM)Hmgu HET Early adult 8.82×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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Human diseases caused by Mcu 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 Mcu by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Increased LDL cholesterol concentration, ... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera... OMIM:612526
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Failure to thrive... ORPHA:181393
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... ORPHA:2457
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal obesity, Hypercholest... OMIM:615812
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adi... OMIM:151660
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Increased mitochondrial number ORPHA:457050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number, Myalgia ORPHA:352470
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Increased C-peptide level, Insulin resistance, Adipose tissue loss, Bone cyst, ... ORPHA:528
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Acr... OMIM:248370
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Diabetes mellitus, Hypercholesterolemia, Obesity, ... ORPHA:77296
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Elevated hemoglobin A... OMIM:618858
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneou... OMIM:604367
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Temple Syndrome
Flexion contracture, Small for gestational age, Obesity, Maturity-onset diabetes of the young, Tr... OMIM:616222
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... ORPHA:86816
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:606176
Laron Syndrome
Hypoglycemia, Truncal obesity, Hypercholesterolemia ORPHA:633
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Myalgia, Failure to thrive, Exercise intolerance, Exercise-induced myalgi... OMIM:618250
Spastic Paraplegia Type 7
Lower limb pain, Abnormal mitochondrial morphology ORPHA:99013
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia OMIM:616267
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestational age, Maternal ... ORPHA:99886
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... OMIM:605814
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Barth Syndrome
Failure to thrive, Exercise intolerance, Fatigue, Abnormal mitochondrial morphology OMIM:302060
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Diabetes mellitus, Increased LDL cholesterol concentration, Decrea... ORPHA:412
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion ORPHA:91130
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Recurrent hypoglycemia,... ORPHA:79240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... OMIM:500013
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyperlipidemia ORPHA:2089
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia ORPHA:209902
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Hyperglycemia, ... OMIM:608612
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypoglycemia, Hypercholest... ORPHA:264580
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hyperglycemia, Abdominal obesity, Osteoporosis, Increased b... OMIM:615954
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Lysosomal Acid Lipase Deficiency
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:278000
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Small for gestational age, Hypoglycemia, Postprandial hy... OMIM:262190
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... ORPHA:552
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Mitochondrial hypertrophy OMIM:619518
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Hypercholesterolemia ORPHA:819
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Exercise intolerance ORPHA:352447
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Fast... ORPHA:370
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Small for gestational age, Reduced subcutaneous adipose tissue, Decre... OMIM:606721
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia ORPHA:2479
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Failu... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Mitochondrial swelling OMIM:615595
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Failure to thrive, Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Osteopenia, H... ORPHA:79259
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Obesity, Diabetes mellitus, Overweight, Hyperch... ORPHA:90041
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Osteoporosis, Increased LDL cho... ORPHA:470
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating lipid concentration, Decreased body weight, Fasting hypogl... ORPHA:2298
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont... OMIM:309000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex III, Decreased activity... ORPHA:17
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal pain, Cachexia, Abnormality of the mitochondrion, Weight loss ORPHA:298
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthe... ORPHA:275761
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia OMIM:619471
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Immunodeficiency 47
Failure to thrive, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hyperaldosteronism, Osteomalacia, Hypophosphatemia, Hypokalemia, Inguinal h... ORPHA:534
Alagille Syndrome 1
Failure to thrive, Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Steinert Myotonic Dystrophy
Diabetes mellitus, Hyperinsulinemia, Insulin resistance, Hypercholesterolemia ORPHA:273
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Abnormality of the mitochondrion OMIM:214110
Sialuria
Episodic abdominal pain, Abnormality of the mitochondrion ORPHA:3166
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Inguinal hernia, Failure to thrive, Increased circulating ferritin concentrat... OMIM:619534
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of the mitochondrion, Myalgia, Failure to thrive, Exercise intolerance, Fatigue ORPHA:254892
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665

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 Mcu

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 Mcu.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MCUb Induction Protects the Heart From Postischemic Remodeling. Circulation research (April 2020) Mcubtm1c(KOMP)Mbp Mcubtm1a(KOMP)Mbp 32299299
The mitochondrial calcium uniporter is crucial for the generation of fast cortical network rhythms. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism (November 2019) Mcutm1c(EUCOMM)Hmgu 31722597
Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity. Nature neuroscience (September 2019) Mcutm1c(EUCOMM)Hmgu Mcutm1a(EUCOMM)Hmgu 31501572
Loss of mitochondrial calcium uniporter rewires skeletal muscle metabolism and substrate preference. Cell death and differentiation (September 2018) Mcutm1a(EUCOMM)Hmgu PMC6329801
m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration. Cell research (February 2018) Mcutm1a(EUCOMM)Hmgu PMC5835776
Structure, Activity Regulation, and Role of the Mitochondrial Calcium Uniporter in Health and Disease. Frontiers in oncology (July 2017) Mcutm1b(EUCOMM)Hmgu PMC5502327
MCUR1 Is a Scaffold Factor for the MCU Complex Function and Promotes Mitochondrial Bioenergetics. Cell reports (May 2016) Mcur1tm1c(KOMP)Wtsi Mcur1tm1a(KOMP)Wtsi PMC4880542

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MGI Allele Allele Type Produced
Mcutm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Mcutm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Mcutm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mcutm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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