Gene Summary

SBBIZ1,  2810011C24Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
hyperactivity Mynnem1(IMPC)J HOM   Early adult 6.26×10-08
persistence of hyaloid vascular system Mynnem1(IMPC)J HOM Early adult 3.69×10-09
decreased circulating calcium level Mynnem1(IMPC)J HOM   Early adult 3.97×10-06
increased circulating aspartate transaminase level Mynnem1(IMPC)J HOM Early adult 3.04×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electroretinography 3

Fundus file

8 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

8 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology


2 Images


XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

8 Images

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
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia ORPHA:172
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bone cyst, Os... ORPHA:93160
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst ORPHA:2668
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:264700
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... OMIM:127000
Albers-Sch├Ânberg Osteopetrosis
Optic atrophy, Generalized osteosclerosis, Hypocalcemia ORPHA:53
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity ORPHA:75858
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Hypocalcemia, Calvarial osteosclerosis, Hypomagnesemia OMIM:244460
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Inappropriate laughter,... OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hypocalcemia, Osteopetrosis, Calvarial osteosclerosis, Craniosynostosis, Increased... OMIM:259700
Gracile Bone Dysplasia
Aniridia, Hypocalcemia, Decreased skull ossification OMIM:602361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Anorexia OMIM:175500
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... OMIM:617994
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypocalcemia, Sparse bone trabeculae, Hyp... ORPHA:289157
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Coloboma, Hypertriglyceridemia OMIM:618183
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Maternal hyperphe... OMIM:261600
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Calcinosi... ORPHA:79444
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Timothy Syndrome
Hypocalcemia OMIM:601005
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased o... OMIM:259720
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Calcinosi... ORPHA:79443
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Hypocalcemia OMIM:607143
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Craniosynostosis, Hypercalcemia ORPHA:436
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia OMIM:211900
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossification, Ano... OMIM:241500
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Hypocalcemia OMIM:212750
Infantile Myofibromatosis
Hypercalcemia, Osteolysis, Bone cyst ORPHA:2591
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Papilledema, Calvarial oste... ORPHA:93325
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Hypercalcemia, Osteolysis, Osteosclerosis of the ulna OMIM:602080
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Abnormality of retinal pigmentation, Hypocalcemia, Abnormal bone o... ORPHA:175
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Ethylene Glycol Poisoning
Addictive alcohol use, Hyperkalemia, Hypocalcemia ORPHA:31826
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced... ORPHA:667
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Thin bony cortex, Unconjugated hyperbilirubin... OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen, Craniosynostosis ORPHA:251004
Velocardiofacial Syndrome
Aggressive behavior, Hypocalcemia OMIM:192430
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Polyphagia, Attention def... OMIM:620330
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Fibrous dysplasia of the bones, Hypophosphatemia, T... ORPHA:249
Pearson Syndrome
Pigmentary retinopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalanine... ORPHA:699
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Hypocalcemia, Elevated circulating creatine kinase concentration, Retinal atrophy,... ORPHA:2785
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Polydipsia, Calcinosis OMIM:239200
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypophosphatemia, Hypercalcemia OMIM:156400
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving ORPHA:358
Microphthalmia/Coloboma 12
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyponatremia, Generalized bone demineralization, Anorexia, Hypercalcemia ORPHA:199299
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor... OMIM:277440
Hyperactivity, Hyperhistidinemia ORPHA:2157
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... ORPHA:95409
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Cranioectodermal Dysplasia 1
Osteoporosis, Sagittal craniosynostosis, Hypocalcemia OMIM:218330
22Q11.2 Deletion Syndrome
Optic atrophy, Attention deficit hyperactivity disorder, Hypocalcemia, Multiple suture craniosyno... ORPHA:567
Hennekam Syndrome
Craniosynostosis, Hypocalcemia ORPHA:2136
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Addison Disease
Hyperuricemia, Hyponatremia, Salt craving, Generalized bone demineralization, Anorexia, Hyperkale... ORPHA:85138
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hype... OMIM:601678
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Osteopenia, Hypercalcemia ORPHA:29073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v... OMIM:614643
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia ORPHA:99880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Bruxism, Stereotypical body rocking, Hypocalcemia, Dysphagia, Impulsivity OMIM:619503
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Osteopetrosis, Hypoc... OMIM:612301
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia ORPHA:143
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypercalcemia, Craniosynostosis, Hypertriglyceridemia ORPHA:369837
Charge Syndrome
Retinal coloboma, Hypocalcemia, Self-mutilation, Coloboma, Dysphagia, Iris coloboma OMIM:214800
Hypercalcemia OMIM:171300
Digeorge Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... OMIM:612716
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular system OMIM:620185
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Hypercalcemia, Anorexia ORPHA:97278
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Hypercalcemia, Anorexia ORPHA:97283
Hypercalcemia, Anorexia ORPHA:97261
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Hypercalcemia, Anorexia ORPHA:97280
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Hypercalcemia, Osteolysis, Anorexia ORPHA:652
Williams Syndrome
Osteopenia, Abnormal circulating lipid concentration, Overfriendliness, Elevated circulating crea... ORPHA:904
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Full Nf2-Related Schwannomatosis
Dysphagia, Remnants of the hyaloid vascular system ORPHA:637
Williams-Beuren Syndrome
Osteopenia, Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Osteoporosis, H... OMIM:194050
Norrie Disease
Self-injurious behavior, Optic atrophy, Attention deficit hyperactivity disorder, Retinal detachm... ORPHA:649
Hypercalcemia, Bone cyst ORPHA:797
Neuroocular Syndrome 1
Attention deficit hyperactivity disorder, Iris coloboma, Remnants of the hyaloid vascular system,... OMIM:619539
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Sotos Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hypercalcemia, Craniosynostosis ORPHA:821
Microphthalmia, Syndromic 2
Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170


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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