Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Mpi MGI:97075

Gene Summary

Name:

mannose phosphate isomerase

Synonyms:

1110002E17Rik, Mpi-1, Mpi1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal bone mineralization	Mpi^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.57×10^-05
increased prepulse inhibition	Mpi^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.69×10^-05
increased circulating calcium level	Mpi^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.58×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

Phenotype associated images not available

Human diseases caused by Mpi 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.

Human diseases associated with Mpi (2 diseases)
Human diseases predicted to be associated with Mpi (216 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mpi-Cdg		Hypoalbuminemia	ORPHA:79319
Congenital Disorder Of Glycosylation, Type Ib		Hypoalbuminemia	OMIM:602579

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

Disease	Matching phenotypes	Source
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Hypophosphatasia	Recurrent fractures, Hypercalcemia, Craniosynostosis	ORPHA:436
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Infantile Myofibromatosis	Bone cyst, Osteolysis, Hypercalcemia, Limitation of joint mobility	ORPHA:2591
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract...	OMIM:241500
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi...	OMIM:156400
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi...	ORPHA:249
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma...	ORPHA:93160
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia	OMIM:239200
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen	ORPHA:251004
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Oculoskeletodental Syndrome	Hypercalcemia, Elbow flexion contracture, Hypocalcemia	OMIM:618440
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:264700
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Rickets	OMIM:602722
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit...	ORPHA:289157
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Generalized bone demineralization	ORPHA:199299
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner...	ORPHA:157215
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia	OMIM:244460
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hypocalcemia, Osteopetrosis, Pat...	OMIM:259700
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia	OMIM:612462
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem...	OMIM:307800
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia...	ORPHA:94089
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Joint hypermobility	ORPHA:369837
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp...	OMIM:601678
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Rickets	OMIM:615605
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Rickets	OMIM:611590
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat...	ORPHA:352540
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Gene...	ORPHA:85138
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Osteopenia, Rickets	OMIM:211600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Pheochromocytoma	Hypercalcemia	OMIM:171300
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:143
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
X-Linked Agammaglobulinemia	Arthritis, Osteomyelitis, Hypocalcemia	ORPHA:47
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Gracile Bone Dysplasia	Decreased skull ossification, Hypocalcemia	OMIM:602361
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ...	ORPHA:247353
Cystinosis	Hypokalemia, Rickets, Hypophosphatemia	ORPHA:213
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ...	OMIM:227810
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Rickets, Hypocholesterolemia	OMIM:607765
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79444
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Celiac Disease, Susceptibility To, 1	Osteoporosis, Hypocalcemia, Rickets	OMIM:212750
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification	OMIM:103580
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ...	ORPHA:79443
Timothy Syndrome	Hypocalcemia	OMIM:601005
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ...	OMIM:259720
Multiple Endocrine Neoplasia Type 2	Joint laxity, Hypercalcemia	ORPHA:653
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Dent Disease	Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c...	ORPHA:1652
Fanconi-Bickel Syndrome	Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia	ORPHA:2088
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Osteolysis, Hypercalcemia, Reduced bone mineral density	ORPHA:652
Ppoma	Hypercalcemia	ORPHA:97278
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Hypercalcemia, Elevated circulating cre...	ORPHA:904
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin...	ORPHA:36234
Somatostatinoma	Hypercalcemia	ORPHA:97283
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Grfoma	Hypercalcemia	ORPHA:97261
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone...	ORPHA:89936
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,...	ORPHA:562
Glucagonoma	Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur...	ORPHA:3337
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D...	ORPHA:37042
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hypercalcemia, Flexion contracture, Osteoporosis, Radioulnar synostosis	OMIM:194050
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis,...	ORPHA:667
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Joint hyperflexibility, Hypocalcemia, Abnormal bone ossification, ...	ORPHA:175
Infantile Nephropathic Cystinosis	Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Sarcoidosis	Bone cyst, Hypercalcemia	ORPHA:797
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os...	OMIM:277900
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok...	ORPHA:18
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku...	ORPHA:93325
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Sotos Syndrome	Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Bilate...	ORPHA:821
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis	OMIM:218330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os...	OMIM:309000
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hypocalcemia, Recurrent fractures, Elevated circulating creatine kinase concentration	ORPHA:2785
Gitelman Syndrome	Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Hennekam Syndrome	Camptodactyly of finger, Hypocalcemia, Craniosynostosis	ORPHA:2136
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Cystinosis, Nephropathic	Hyponatremia, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia...	OMIM:219800
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o...	ORPHA:198
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Joint hyperflexi...	ORPHA:534
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
22Q11.2 Deletion Syndrome	Joint hyperflexibility, Multiple suture craniosynostosis, Hypocalcemia, Arthritis	ORPHA:567
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Flexion contracture, Elbo...	OMIM:619503
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy...	OMIM:619381
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Hypocalcemia	OMIM:620330
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Charge Syndrome	Hypocalcemia	OMIM:214800
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Joint laxity, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Fused cervical vertebrae, Osteomalacia, Abnormal calcification of the c...	ORPHA:51608
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579

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 Mpi

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 Mpi.

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

Title	Journal	IMPC Allele	PubMed ID
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Mpig6b^{tm1(KOMP)Vlcg}	PMC4739719

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Mpi^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Mpi^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Mpi^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us