Gene Summary

Name:
PTEN induced putative kinase 1
Synonyms:
1190006F07Rik,  brpk

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Pink1tm1b(EUCOMM)Wtsi HOM Early adult 1.39×10-07
decreased mean platelet volume Pink1tm1b(EUCOMM)Wtsi HOM   Early adult 3.69×10-05
decreased bone mineral content Pink1tm1b(EUCOMM)Wtsi HOM Early adult 2.04×10-05

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)
Aorta  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)
Brown adipose tissue  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)
Gall bladder  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)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  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)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 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 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen 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 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Pink1 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.

The table below shows human diseases associated to Pink1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Young-Onset Parkinson Disease
Gait imbalance, Impaired social interactions, Hyposmia ORPHA:2828
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia OMIM:605909

The table below shows human diseases predicted to be associated to Pink1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Thrombocytopenia 1
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Osteoporosis
Osteoporosis OMIM:166710
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Combined Oxidative Phosphorylation Deficiency 38
Depressed nasal bridge, Decreased activity of mitochondrial complex IV, Abnormal mitochondrial mo... OMIM:618378
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Difficulty walking, Decreased mitochondrial number ORPHA:352470
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge OMIM:600679
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Difficulty walking, De... OMIM:500013
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... OMIM:231095
Peroxisome Biogenesis Disorder 9B
Ataxia, Anosmia OMIM:614879
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Huntington Disease
Gait imbalance, Inability to walk, Abnormality of the sense of smell, Gait disturbance, Difficult... ORPHA:399
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Hsd10 Mitochondrial Disease
Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hyposmia OMIM:613724
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum, Choanal atresia, Anosmia, Hyposmia OMIM:147950
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Spastic Paraplegia Type 7
Spastic gait, Abnormal mitochondrial morphology ORPHA:99013
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Anemia, Arthritis, Impaired platelet aggregation, Chroni... OMIM:210250
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Progressive cerebellar ataxia ORPHA:275872
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Hyposmia, Gait disturbance, Anosmia OMIM:606693
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Hyposmia OMIM:608720
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Anosmia OMIM:614837
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Abnormality of the mitochondrion ORPHA:330050
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Anosmia, Hyposmia OMIM:614897
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Steppage gait OMIM:601152
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Refsum Disease, Classic
Ataxia, Anosmia OMIM:266500
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Ataxia, Anosmia, Hyposmia OMIM:308700
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Young-Onset Parkinson Disease
Gait imbalance, Impaired social interactions, Hyposmia ORPHA:2828
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hydrolethalus
Abnormality of the sense of smell, Agenesis of corpus callosum ORPHA:2189
Hsd10 Disease
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Midnasal stenosis, ... OMIM:147250
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Barth Syndrome
Gait disturbance, Recurrent bronchitis, Abnormal mitochondrial morphology OMIM:302060
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Anosmia ORPHA:1295
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Johnson Neuroectodermal Syndrome
Bulbous nose, Choanal atresia, Anosmia ORPHA:2316
Friedreich Ataxia
Ataxia, Limb ataxia, Gait ataxia, Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Refsum Disease
Ataxia, Anosmia ORPHA:773
Kallmann Syndrome With Spastic Paraplegia
Ataxia, Anosmia OMIM:308750
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Recurrent bronchitis, Absent outer dynein arms, Anosmia OMIM:244400
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Dystonia-Aphonia Syndrome
Gait disturbance, Abnormal mitochondrial shape, Unsteady gait ORPHA:412217
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Johnson Neuroectodermal Syndrome
Anosmia, Choanal stenosis OMIM:147770
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... OMIM:168000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell, Azoospermia OMIM:228300
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Poor eye contact, Abnormal social behavior ORPHA:444002
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Pathologic... OMIM:607330
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Spastic ataxia, Lethargy OMIM:277410
Superficial Siderosis
Ataxia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Unsteady gait, Partial anosmia, Progressive g... ORPHA:247245
Kallmann Syndrome
Gait disturbance, Ataxia, Anosmia, Hyposmia ORPHA:478
Paragangliomas 3
Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad... OMIM:605373
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Loss of ambulation OMIM:619518
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Camptodactyly OMIM:616737
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:251110
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae ORPHA:284160
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:251100
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Abnormal nonverbal communicative behavior ORPHA:485421
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Septo-Optic Dysplasia Spectrum
Agenesis of corpus callosum, Anosmia ORPHA:3157
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia, Hyposmia ORPHA:411602
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Abnormality of mitochondrial metabolism ORPHA:1192
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Ataxia, Gait ataxia ORPHA:543470
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Dopa-Responsive Dystonia
Gait disturbance, Difficulty walking, Inability to walk, Abnormal social behavior ORPHA:255
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Depressed nasal tip, Choa... ORPHA:2162
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Hyposmia ORPHA:2250
8P11.2 Deletion Syndrome
Depressed nasal bridge, Azoospermia, Anosmia ORPHA:251066
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia, Flexion contracture, Camptodactyly ORPHA:487796
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Choreoathetosis, De... ORPHA:17
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis ORPHA:84064
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Lamb-Shaffer Syndrome
Broad nasal tip, Ataxia, Abnormal social behavior ORPHA:530983
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Meningioma
Abnormality of the sense of smell, Ataxia, Difficulty walking ORPHA:2495
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Anosmia OMIM:609136
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Hyposmia OMIM:618653
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:277400
Amoebiasis Due To Free-Living Amoebae
Ataxia, Hyposmia ORPHA:68
Friedreich Ataxia 2
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Failure to thrive, Ataxia, Gait ataxia ORPHA:255210
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Diabetic ketoacidosis, Steppage gait, Diabetes mellitus, Decreased pyruvate carboxylase a... OMIM:302900
Manganese Poisoning
Gait disturbance, Akinesia, Abnormality of mitochondrial metabolism ORPHA:306682
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Wilson Disease
Hyposmia OMIM:277900
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity OMIM:229310
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Choanal atresia, Anosmia OMIM:603457
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion ORPHA:298
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Sialuria
Abnormality of the mitochondrion, Wide nasal bridge ORPHA:3166
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Bulbous nose, Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Wide... ORPHA:314647
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Anosmia ORPHA:138
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior ORPHA:1020
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
48,Xxxy Syndrome
Azoospermia, Depressed nasal ridge, Abnormal social behavior ORPHA:96263
Fg Syndrome Type 1
Prominent nose, Broad-based gait, Choanal atresia, Abnormal social behavior ORPHA:93932
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion OMIM:214110
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia ORPHA:2363
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Ataxia, Gait ataxia, Abnormality of the mitochondrion ORPHA:254892
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Broad nasal tip, Underdeveloped nasolabial fold, Narrow nasal bridge, L... ORPHA:177907
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Dihydropyrimidine Dehydrogenase Deficiency
Prominent nasal tip, Inability to walk, Abnormal social behavior, Depressed nasal bridge, Antever... ORPHA:1675
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Progressive gait ataxia, Abnormal social behavior ORPHA:309271
Von Hippel-Lindau Disease
Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic end... ORPHA:892
Charge Syndrome
Choanal atresia, Anosmia OMIM:214800
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia OMIM:605909
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Abnormality of mitochondrial metabolism ORPHA:314404
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Bulbous nose, Abnormal social behavior, Agenesis of corpus callosum, Thick nasa... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Bulbous nose, Abnormal social behavior, Agenesis of corpus callosum, Thick nasa... ORPHA:363958
Mend Syndrome
Abnormal nasal bridge morphology, Prominent nasal bridge, Abnormal social behavior ORPHA:401973
Niemann-Pick Disease Type C
Gait disturbance, Ataxia, Progressive gait ataxia, Abnormal social behavior ORPHA:646
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Gait disturbance, ... ORPHA:904
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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 Pink1

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 Pink1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of neuronal Miro1 disrupts mitophagy and induces hyperactivation of the integrated stress response. The EMBO journal (June 2021) Pink1tm1b(EUCOMM)Wtsi PMC8280823
Mitophagy deficiency increases NLRP3 to induce brown fat dysfunction in mice. Autophagy (May 2020) Pink1tm1a(EUCOMM)Wtsi PMC8143238
A refinement to the formalin test in mice. F1000Research (June 2019) Pink1tm1b(EUCOMM)Wtsi PMC6707399

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Pink1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pink1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pink1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

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

Subscribe to newsletter