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Gene: Mynn MGI:1931415

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Gene Summary

Name:
myoneurin
Synonyms:
2810011C24Rik,  SBBIZ1

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 bone mineral content Mynnem1(IMPC)J HOM Early adult 9.69×10-10
persistence of hyaloid vascular system Mynnem1(IMPC)J HOM Early adult 2.82×10-08
hyperactivity Mynnem1(IMPC)J HOM   Early adult 6.26×10-08
decreased circulating calcium level Mynnem1(IMPC)J HOM Early adult 5.01×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electroretinography 3

Fundus file

8 Images

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Eye Morphology

Images Slit Lamp

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Mynn 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 Mynn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Intermediate Osteopetrosis
Cortical sclerosis, Generalized osteosclerosis, Abnormality of bone mineral density, Osteoscleros... ORPHA:210110
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnormal bone structure, Coa... ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... OMIM:600081
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia,... OMIM:264700
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Optic atrophy, Hypocalcemia ORPHA:53
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, H... OMIM:618476
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia OMIM:612462
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Increased bone mineral density, Retinal calcification, H... OMIM:127000
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Craniosynostosis, Optic atrophy, Hypocalcemia, Osteopetrosis, Cal... OMIM:259700
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae,... ORPHA:289157
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... ORPHA:94089
Gracile Bone Dysplasia
Aniridia, Decreased skull ossification, Hypocalcemia OMIM:602361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia OMIM:175500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Morm Syndrome
Hyperactivity, Retinal atrophy, Aggressive behavior ORPHA:75858
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Optic atrophy, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... OMIM:261600
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia ORPHA:352540
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Cranial hyperostosis, Optic atrophy, Decreased... OMIM:259720
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... ORPHA:79443
Timothy Syndrome
Hypocalcemia OMIM:601005
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Hypocalcemia OMIM:607143
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypophosphatasia
Hypercalcemia, Craniosynostosis ORPHA:436
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Rickets OMIM:212750
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Craniosynostosis, Decreased calvarial oss... OMIM:241500
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Infantile Myofibromatosis
Bone cyst, Osteolysis, Hypercalcemia ORPHA:2591
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification OMIM:103580
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Osteolysis, Hypercalcemia, Osteosclerosis of the ulna OMIM:602080
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Hyperphosphatemia... ORPHA:93325
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Ethylene Glycol Poisoning
Hyperkalemia, Addictive alcohol use, Hypocalcemia ORPHA:31826
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis, Hypophosphatemia, Op... ORPHA:667
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Hypocalcemia, Abnormal bone o... ORPHA:175
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... ORPHA:476126
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior OMIM:192430
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen ORPHA:251004
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... ORPHA:249
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou... OMIM:620330
Pearson Syndrome
Dysphagia, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia, H... ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Unconjugated hy... OMIM:613658
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Osteopetrosis... ORPHA:2785
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Generalized bone demineraliza... ORPHA:199299
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Hypophosphatemia OMIM:156400
Gitelman Syndrome
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia ORPHA:358
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphate... OMIM:277440
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
22Q11.2 Deletion Syndrome
Optic atrophy, Hypocalcemia, Attention deficit hyperactivity disorder, Multiple suture craniosyno... ORPHA:567
Cranioectodermal Dysplasia 1
Osteoporosis, Hypocalcemia, Sagittal craniosynostosis OMIM:218330
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hennekam Syndrome
Hypocalcemia, Craniosynostosis ORPHA:2136
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Bruxism, Dysphagia, Stereotypical body rocking, Hypocalcemia, Hypomagnesemia OMIM:619503
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Polydipsia ORPHA:99880
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Osteopetrosis, Optic nerve compression, Hypoc... OMIM:612301
Multiple Myeloma
Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... OMIM:601678
Parathyroid Carcinoma
Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Polydipsia ORPHA:143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis ORPHA:369837
Charge Syndrome
Self-mutilation, Coloboma, Retinal coloboma, Hypocalcemia, Dysphagia, Iris coloboma OMIM:214800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
Pheochromocytoma
Hypercalcemia OMIM:171300
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Attention deficit hyperactivity disorder OMIM:620185
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Glucagonoma
Hypercalcemia, Anorexia ORPHA:97280
Multiple Endocrine Neoplasia Type 1
Osteolysis, Hypercalcemia, Anorexia, Reduced bone mineral density ORPHA:652
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Williams Syndrome
Osteopenia, Increased bone mineral density, Elevated circulating creatine kinase concentration, H... ORPHA:904
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Dysphagia ORPHA:637
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Williams-Beuren Syndrome
Osteopenia, Hypercalcemia, Osteoporosis, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:194050
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy, Self-injurious behavi... ORPHA:649
Neuroocular Syndrome
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Attention deficit hyperact... OMIM:619539
Sarcoidosis
Bone cyst, Hypercalcemia ORPHA:797
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Sotos Syndrome
Craniosynostosis, Hypercalcemia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:821
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166

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 Mynn

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 Mynn.

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

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MGI Allele Allele Type Produced
Mynntm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mynntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mynntm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mynnem1(IMPC)J Exon Deletion Mice

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