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Gene: Mindy1 MGI:1922257

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Gene Summary

Name:
MINDY lysine 48 deubiquitinase 1
Synonyms:
NF-E2 inducible protein,  1810005H09Rik,  4930504E06Rik,  Fam63a,  cI-40

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 circulating free fatty acids level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 6.04×10-09
abnormal locomotor activation Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 1.58×10-09
decreased circulating calcium level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 2.60×10-05
decreased circulating glycerol level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 3.59×10-07
decreased circulating amylase level Mindy1tm1a(EUCOMM)Wtsi HOM Early adult 7.30×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 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 50% (1 of 2)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Not available
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Not available
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

View images
Adult LacZ

LacZ Images Wholemount

24 Images

View images

Human diseases caused by Mindy1 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 Mindy1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:264700
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Timothy Syndrome
Hypocalcemia OMIM:601005
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Ataxia, Decreased circulating copper concentra... ORPHA:48818
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia ORPHA:289157
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hypocalcemia, Difficulty walking OMIM:618476
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Celiac Disease, Susceptibility To, 1
Ataxia, Hypocalcemia, Steatorrhea OMIM:212750
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Parkinson Disease 17
Akinesia OMIM:614203
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Hypocalcemia ORPHA:746
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia OMIM:617913
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Congenital Myopathy 12
Abnormal circulating creatine kinase concentration, Akinesia OMIM:612540
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Congenital Myopathy 9A
Akinesia OMIM:618822
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia OMIM:618249
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Pseudohypoparathyroidism Type 1A
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic s... ORPHA:79443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Hypophosphatasia
Hypercalcemia ORPHA:436
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Ethylene Glycol Poisoning
Hyperkalemia, Ataxia, Hypocalcemia ORPHA:31826
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Pearson Syndrome
Ataxia, Steatorrhea, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Akinesia OMIM:619147
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia ORPHA:199299
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:95409
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Increased circulating cortisol level, Difficulty walking, Hypophosp... ORPHA:249
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Gait ataxia ORPHA:476126
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:85138
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Tip-toe gait, Falls, Hypocalcemia, Hypomagnesemia OMIM:619503
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Hypocalcemia OMIM:620330
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Pheochromocytoma
Hypercalcemia OMIM:171300
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97283
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Vipoma
Increased circulating cortisol level, Hypokalemia, Hypercalcemia ORPHA:97282
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97280
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia ORPHA:913
Grfoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Digeorge Syndrome
Hypocalcemia OMIM:188400
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Charge Syndrome
Hypocalcemia OMIM:214800
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Dpagt1-Cdg
Inability to walk, Ataxia, Akinesia ORPHA:86309
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
African Trypanosomiasis
Akinesia, Choreoathetosis, Gait disturbance, Abnormality of circulating cortisol level, Difficult... ORPHA:3385
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia ORPHA:652
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams Syndrome
Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Dysmetria, Gait distur... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Williams-Beuren Syndrome
Hypercalcemia, Gait imbalance OMIM:194050
Sarcoidosis
Hypercalcemia ORPHA:797
Sotos Syndrome
Hypercalcemia ORPHA:821

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 Mindy1

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 Mindy1.

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

Title Journal IMPC Allele PubMed ID
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Mindy1tm1a(EUCOMM)Wtsi PMC4631787

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mindy1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mindy1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mindy1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mindy1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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