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 mean platelet volume Pink1tm1b(EUCOMM)Wtsi HOM   Early adult 3.69×10-05
decreased bone mineral density Pink1tm1b(EUCOMM)Wtsi HOM Early adult 3.36×10-07
decreased bone mineral content Pink1tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-05

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 0.0%
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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Skull Dorso Ventral 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
Hyposmia, Gait imbalance, Reduced social reciprocity 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, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
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
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... OMIM:618378
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Osteoporosis
Osteoporosis OMIM:166710
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity OMIM:606053
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Impaired ability to form peer relationships, Unsteady gait, Reduced social recipr... OMIM:608636
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Difficulty walking, Gait disturbance ORPHA:352470
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Difficulty walking, Neurogenic bladder, Decreased activity of mitochondrial complex I, Decreased ... OMIM:500013
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Azoospermia OMIM:613724
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocytopenia, Leukopenia, H... OMIM:231095
Huntington Disease
Difficulty walking, Inability to walk, Gait imbalance, Gait disturbance, Abnormality of the sense... ORPHA:399
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Hsd10 Mitochondrial Disease
Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Peroxisome Biogenesis Disorder 9B
Ataxia, Anosmia, Total anosmia OMIM:614879
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
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Bifid nose, Anosmia OMIM:614838
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Musk, Inability To Smell
Anosmia OMIM:254150
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Spastic Paraplegia Type 7
Spastic gait, Abnormal mitochondrial morphology ORPHA:99013
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Depressed nasal bridge, Anosmia, Short nasal septum OMIM:302950
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Agenesis of corpus callosum, Choanal atresia OMIM:147950
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis... OMIM:210250
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Abnormality of the sense of smell OMIM:229070
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia OMIM:610628
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Kufor-Rakeb Syndrome
Akinesia, Hyposmia, Anosmia, Gait disturbance, Ataxia OMIM:606693
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Oxoglutaric Aciduria
Ataxia, Abnormality of Krebs cycle metabolism ORPHA:31
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal mitochondrial morphology ORPHA:275872
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia, Azoospermia OMIM:614897
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia OMIM:244200
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria OMIM:615578
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Ataxia, Anosmia, Azoospermia OMIM:308700
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia OMIM:619755
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Anosmia OMIM:601152
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Decreased circulating ... ORPHA:859
Young-Onset Parkinson Disease
Hyposmia, Gait imbalance, Reduced social reciprocity ORPHA:2828
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Refsum Disease, Classic
Ataxia, Anosmia OMIM:266500
Hydrolethalus
Agenesis of corpus callosum, Abnormality of the sense of smell ORPHA:2189
Hsd10 Disease
Gait disturbance, Choreoathetosis, Ataxia, Abnormal social behavior ORPHA:391417
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa... OMIM:187900
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Abnormality of the sense of smell OMIM:616113
Kallmann Syndrome With Spastic Paraplegia
Ataxia, Anosmia OMIM:308750
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Azoospermia OMIM:614837
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia OMIM:611209
Solitary Median Maxillary Central Incisor
Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s... OMIM:147250
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Abnormality of the sense of smell OMIM:228300
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Unsteady gait, Gait disturbance ORPHA:412217
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Waddling gait OMIM:602541
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Bardet-Biedl Syndrome 17
Hyposmia, Anosmia OMIM:615994
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Abnormality of tumor necrosis factor secretion, Abnormal circulating inter... ORPHA:70578
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... OMIM:605373
Refsum Disease
Ataxia, Anosmia ORPHA:773
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Superficial Siderosis
Limb ataxia, Partial anosmia, Dysdiadochokinesis, Anosmia, Ataxia, Unsteady gait, Progressive gai... ORPHA:247245
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Loss of ambulation OMIM:619518
Friedreich Ataxia
Limb ataxia, Decreased pyruvate carboxylase activity, Gait ataxia, Ataxia, Diabetes mellitus OMIM:229300
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis, Absent outer dynein arms OMIM:244400
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Kallmann Syndrome
Hyposmia, Ataxia, Anosmia, Gait disturbance ORPHA:478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Camptodactyly OMIM:616737
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Abnormal social behavior ORPHA:444002
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Spastic ataxia, Lethargy OMIM:277410
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Wide nose, Abnormality of the sense of smell ORPHA:284160
Septo-Optic Dysplasia Spectrum
Anosmia, Agenesis of corpus callosum ORPHA:3157
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Hereditary Late-Onset Parkinson Disease
Hyposmia, Akinesia, Shuffling gait ORPHA:411602
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Ataxia, Gait ataxia ORPHA:543470
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:251110
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Holoprosencephaly
Hyposmia, Anteverted nares, Anosmia, Choanal atresia, Depressed nasal tip, Depressed nasal ridge,... ORPHA:2162
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Azoospermia ORPHA:251066
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hyposmia, Absent nares, Single naris, Anosmia ORPHA:2250
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:251100
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia, Flexion contracture, Camptodactyly ORPHA:487796
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Decreased activity of mitochondrial complex I OMIM:618250
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex I, Unsteady gait, Decre... ORPHA:17
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Neuroblastoma
Elevated circulating catecholamine level, Ataxia, Weight loss, Antalgic gait ORPHA:635
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Lamb-Shaffer Syndrome
Broad nasal tip, Ataxia, Abnormal social behavior ORPHA:530983
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... ORPHA:542323
Macrophage Activation Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:158061
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Anosmia OMIM:609136
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Meningioma
Difficulty walking, Ataxia, Abnormality of the sense of smell ORPHA:2495
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Difficulty walking OMIM:618653
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration ORPHA:85410
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Bardet-Biedl Syndrome
Neurogenic bladder, Rhinitis, Prominent nasal bridge, Ataxia, Abnormality of the sense of smell, ... ORPHA:110
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Ataxia ORPHA:68
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion, Abnormal circulating interleukin concentration ORPHA:69665
Fumarase Deficiency
Anteverted nares, Mitochondrial swelling, Agenesis of corpus callosum, Depressed nasal bridge OMIM:606812
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration ORPHA:363558
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Mitochondrial Dna-Associated Leigh Syndrome
Gait ataxia, Failure to thrive, Ataxia, Abnormality of Krebs cycle metabolism ORPHA:255210
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia OMIM:603457
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration ORPHA:158057
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Abnormal social behavior, Anteverted nares, Nonprogressive cerebellar ataxia, Ataxia, ... ORPHA:314647
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Small for gestational age, Lethargy OMIM:277400
Wilson Disease
Hyposmia OMIM:277900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... ORPHA:79124
Charge Syndrome
Anosmia, Depressed nasal bridge, Choanal atresia ORPHA:138
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior ORPHA:1020
Fg Syndrome Type 1
Prominent nose, Choanal atresia, Abnormal social behavior, Broad-based gait ORPHA:93932
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
48,Xxxy Syndrome
Depressed nasal ridge, Abnormal social behavior, Azoospermia ORPHA:96263
Friedreich Ataxia 2
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Prader-Willi Syndrome Due To Translocation
Short nose, Underdeveloped nasolabial fold, Abnormal social behavior, Narrow nasal bridge, Anteve... ORPHA:177907
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Thyroid carcinoma, Increased circulating a... ORPHA:3261
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive gait ataxia ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Abnormal social behavior, Progressive gait ataxia ORPHA:309271
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Anteverted nares, Prominent nasal tip, Depressed nas... ORPHA:1675
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia OMIM:605909
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Elevated cir... ORPHA:892
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Charge Syndrome
Anosmia, Choanal atresia OMIM:214800
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Pear-shaped nose, Thick nasal alae, Inappropriate laughter, Prominent n... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Pear-shaped nose, Thick nasal alae, Inappropriate laughter, Prominent n... ORPHA:363958
Mend Syndrome
Prominent nasal bridge, Abnormal nasal bridge morphology, Abnormal social behavior ORPHA:401973
Niemann-Pick Disease Type C
Gait disturbance, Ataxia, Abnormal social behavior, Progressive gait ataxia ORPHA:646
Williams Syndrome
Short nose, Gait imbalance, Abnormal social behavior, Gait disturbance, Ataxia, Overfriendliness,... 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.

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

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