Gene Summary

Name:
cDNA sequence BC055324
Synonyms:
N/A

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
increased bone mineral content BC055324tm1a(EUCOMM)Hmgu HET Early adult 6.47×10-06
decreased circulating glucose level BC055324tm1a(EUCOMM)Hmgu HET Early adult 1.22×10-05
abnormal bone mineralization BC055324tm1a(EUCOMM)Hmgu HET Early adult 1.33×10-08
increased circulating alkaline phosphatase level BC055324tm1a(EUCOMM)Hmgu HET Early adult 1.93×10-05
increased circulating cholesterol level BC055324tm1a(EUCOMM)Hmgu HET Early adult 1.77×10-05
increased circulating amylase level BC055324tm1b(EUCOMM)Hmgu HET Early adult 3.81×10-05
preweaning lethality, complete penetrance BC055324tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal pelvic girdle bone morphology BC055324tm1b(EUCOMM)Hmgu HET Early adult 5.45×10-08
decreased bone mineral density BC055324tm1a(EUCOMM)Hmgu HET Early adult 8.79×10-06
increased circulating HDL cholesterol level BC055324tm1a(EUCOMM)Hmgu HET Early adult 2.27×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  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)
Brain 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)
Kidney 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)
Lower urinary tract 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)
Stomach 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)
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)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb 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)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

4 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by BC055324 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 BC055324 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Glucose intolerance, Diabetes mellitus, Hyper... OMIM:610947
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Upington Disease
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Coxopodopatellar Syndrome
Abnormality of pelvic girdle bone morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, A... ORPHA:1509
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:1891
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:615703
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia OMIM:613618
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Shallow acetabular fossae, Irregular capital femoral epiphysis, B... OMIM:142669
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Type II diabetes mellitus ORPHA:181393
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Rocker bottom foot, Overlapping fingers, Adducted thumb, Ulnar devi... ORPHA:1146
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperuricemia, Diabetes mellitus, Hyperostosi... ORPHA:77296
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Rickets, Steatorrhea OMIM:607748
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Osteomalacia OMIM:193100
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short... OMIM:146000
Temple Syndrome
Flexion contracture, Hypercholesterolemia, Joint hypermobility, Hypertriglyceridemia, Maturity-on... OMIM:616222
Fanconi Renotubular Syndrome 2
Glycosuria, Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Laron Syndrome
Hypoglycemia, Osteoarthritis, Hypercholesterolemia ORPHA:633
Congenital Generalized Lipodystrophy
Increased C-peptide level, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Bone cyst,... ORPHA:528
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Osteomalacia, Hypophosphatemia, Rickets OMIM:134600
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Osteolytic defects of the distal phal... ORPHA:2457
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Abno... ORPHA:2370
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hypouricemia, Diabetes mellitus, Hypophosphatemia, Rickets OMIM:616026
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Osteopo... ORPHA:79240
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Increased circulating beta-C-terminal telopeptide level, ... ORPHA:157215
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Postprandi... ORPHA:2088
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Rickets, Osteomalacia ORPHA:89937
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis, Hypoglycemia ORPHA:369
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Diabetes mellitus, Hypertriglyceridemia, Increased LDL cholest... ORPHA:412
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Clinodactyly of the 5th finger, Absent ... OMIM:610797
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Bone cyst, Osteolysis, ... ORPHA:93160
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets, Steatorrhea OMIM:607765
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Osteoporosis, Elevated circulating crea... ORPHA:264580
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, H... OMIM:600081
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Fanconi Renotubular Syndrome 3
Glycosuria, Rickets OMIM:615605
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Glycerol Kinase Deficiency
Hypoglycemia, Osteoporosis, Hypertriglyceridemia, Pathologic fracture OMIM:307030
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Sitosterolemia 1
Hyperapobetalipoproteinemia, Arthritis, Elevated circulating sitosterol concentration, Hyperchole... OMIM:210250
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Abnormality of pelvic girdle bone morphology, Short metacarpal, Short thumb, Abnor... ORPHA:968
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyse... OMIM:144750
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Coxoauricular Syndrome
Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Hip dislocation ORPHA:1508
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Fanconi-Bickel Syndrome
Glycosuria, Hypokalemia, Osteomalacia, Hypouricemia, Hypophosphatemia OMIM:227810
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Megalocornea-Intellectual Disability Syndrome
Joint hyperflexibility, Osteopenia, Hypercholesterolemia ORPHA:2479
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Dent Disease 1
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed ... OMIM:300009
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Camptodactyly of finger, Abnormality of pelvic girdle bone morphology, Ulnar devia... ORPHA:2928
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Osteoporosis, Rickets, Diabetes mellitus OMIM:560000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epi... OMIM:264700
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Hypocalcemia, Increased susceptibility to fracture... ORPHA:289157
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Abnormality of fibula morphology, Diaphyseal thicke... ORPHA:1803
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Cystinosis
Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Rickets ORPHA:213
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia OMIM:618120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Hypophosphatemia, Osteomalacia OMIM:307800
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron, Abnormality of ... OMIM:231100
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Infantile Systemic Hyalinosis
Joint stiffness, Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fract... ORPHA:2176
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Fasting hypoglycemia, Hypertriglyceridemia, H... ORPHA:370
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Hypogly... OMIM:618838
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Flat aceta... OMIM:256050
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Osteomalacia, Jo... OMIM:309000
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epi... OMIM:277440
Dent Disease
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Hyperuricosuria, Osteomalacia, Elevated ... ORPHA:1652
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Osteopenia, Hypercholesterolemia, Osteoporos... ORPHA:79259
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Wilson Disease
Glycosuria, Osteoarthritis, Osteoporosis, Joint hypermobility, Osteomalacia, High nonceruloplasmi... OMIM:277900
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Gout, Hyperuricemia, Diabetes mellitus, ... ORPHA:90041
Smith-Magenis Syndrome
Joint stiffness, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Osteopenia, Hypercholesterolemia, Hyperprolinemia, ... ORPHA:470
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets,... ORPHA:3337
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Ricket... ORPHA:79303
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... ORPHA:90674
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Osteoporosis, Osteomalacia, Joint hyperflexibility, Rickets ORPHA:1901
Pycnodysostosis
Brachydactyly, Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic gird... OMIM:265800
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsu... ORPHA:2126
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormality of pelvic girdle bone morphology OMIM:607634
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated circulating creatine kinase concentration, Abnormality of pelvic girdle bone morphology OMIM:167320
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Primary hyper... ORPHA:562
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:614736
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormality of femur morphology,... ORPHA:3429
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Abnormality of pelvic girdle bone morphology, Club-shaped distal femur, Erl... OMIM:123000
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Osteoporosis, Type I diabetes mellitus, Rickets, Steatorrhea OMIM:212750
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Steatorrhea ORPHA:309031
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Gout OMIM:232200
Osteogenesis Imperfecta, Type V
Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, Hyperextensibilit... OMIM:610967
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short phalanx of finge... OMIM:157900
Hypophosphatemic Rickets
Joint stiffness, Hypercalcemia, Craniofacial osteosclerosis, Fibrous dysplasia of the bones, Oste... ORPHA:437
Grant Syndrome
Bowing of the long bones, Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone mor... ORPHA:2097
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets ORPHA:411629
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Gout OMIM:232220
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Osteomalacia, Hypermagnesemia, Ren... ORPHA:405
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology OMIM:166600
Immunodeficiency 47
Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Short humerus, Stippled calcification proximal hume... OMIM:222765
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Osteopenia, Joint laxity, Hypocalcemia, Thin bony cortex, Hypoalbuminemia, Reduced ... OMIM:613658
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology,... ORPHA:1458
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Recurrent fractures, Joint stiffness, Hypercholesterolemia, Hypoammone... ORPHA:534
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Isolated Epispadias
Abnormality of pelvic girdle bone morphology ORPHA:93928
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, Arthrogryposis multiplex congenita, ... ORPHA:2671
Chondrodysplasia-Disorder Of Sex Development Syndrome
Abnormality of pelvic girdle bone morphology, Short metacarpal, Short phalanx of finger, Broad lo... ORPHA:1422
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Distal Renal Tubular Acidosis
Hypokalemia, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density, R... ORPHA:18
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Osteogenesis Imperfecta, Type Ii
Broad long bones, Tibial bowing, Abnormality of pelvic girdle bone morphology, Crumpled long bones OMIM:166210
Cleidocranial Dysplasia
Brachydactyly, Abnormal thumb morphology, Hypoplastic inferior ilia, Abnormality of pelvic girdle... ORPHA:1452
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Glucose intolerance, Impaired glu... OMIM:606721
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Fractures of the long bones, Abnormality of pelvic girdle bone morphology OMIM:602080
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Diab... OMIM:219800
Cartilage-Hair Hypoplasia
Abnormality of pelvic girdle bone morphology, Short palm, Metaphyseal cupping, Metaphyseal dyspla... OMIM:250250
Harrod Syndrome
Arachnodactyly, Abnormality of pelvic girdle bone morphology, Abnormal shoulder morphology ORPHA:2115
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormality of pelvic girdle bone morphology, Elevated 8-dehydrocholesterol, Epiphyseal stippling... OMIM:302960
Steinert Myotonic Dystrophy
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Hypercholesterolemia ORPHA:273
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Abnormality of pelvic girdle bone morphology, Finger syndactyly, Aplasia/Hypoplas... ORPHA:1112
Cartilage-Hair Hypoplasia
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:175
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma, Gout OMIM:232240
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Occipital Horn Syndrome
Osteopenia, Osteoporosis, Osteomalacia, Synostosis of joints, Osteolysis, Joint hyperflexibility,... ORPHA:198
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Cortically dense long tubular bones, Deviation of f... OMIM:269500
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Genu varum, Abnormality of pelvic girdle bone morphology, Coxa valga, Short... OMIM:224690
Spastic Paraplegia 9A, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Carpal bone hypoplasia OMIM:601162
Caudal Regression Syndrome
Abnormality of pelvic girdle bone morphology, Abnormal iliac wing morphology ORPHA:3027
Bladder Exstrophy And Epispadias Complex
Abnormality of pelvic girdle bone morphology OMIM:600057
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Osteoporosis, Osteomalacia, Abnormally ossified vertebrae, Rickets ORPHA:2636
Camurati-Engelmann Disease
Abnormality of the ulna, Abnormality of pelvic girdle bone morphology, Coxa valga, Abnormality of... ORPHA:1328
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Osteomalacia, Osteomyelitis, Hypoalbuminem... OMIM:619381
Spondylocarpotarsal Synostosis Syndrome
Brachydactyly, Carpal synostosis, Abnormality of pelvic girdle bone morphology, Short metacarpal,... OMIM:272460
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608
Saethre-Chotzen Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Absent first metatar... OMIM:101400

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 BC055324

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 BC055324.

No publications found that use IMPC mice or data for BC055324.

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MGI Allele Allele Type Produced
BC055324tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
BC055324tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
BC055324tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
BC055324tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
BC055324tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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