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

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 Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 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, Impaired social interactions 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
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia 1
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... OMIM:313900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Combined Oxidative Phosphorylation Deficiency 38
Depressed nasal bridge, Decreased activity of mitochondrial ATP synthase complex, Decreased activ... OMIM:618378
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
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
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell OMIM:146110
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
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... OMIM:500013
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size OMIM:614858
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Azoospermia OMIM:613724
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Bifid nose, Decreased testicular size OMIM:614838
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Huntington Disease
Inability to walk, Abnormality of the sense of smell, Gait disturbance, Gait imbalance, Difficult... ORPHA:399
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Cryptorchidism, Anosmia, Decreased testicular size OMIM:610628
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Hsd10 Mitochondrial Disease
Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia OMIM:612370
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
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Cryptorchidism, Anosmia OMIM:612702
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Cryptorchidism, Anosmia, Hyposmia, Agenesis of corpus callosum OMIM:147950
Musk, Inability To Smell
Anosmia OMIM:254150
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Spastic Paraplegia Type 7
Spastic gait, Abnormal mitochondrial morphology ORPHA:99013
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Cryptorchidism, Anosmia OMIM:244200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size OMIM:614897
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size OMIM:614880
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Anosmia, Gait disturbance, Hyposmia OMIM:606693
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Ataxia, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, Decreased testicular ... OMIM:308700
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal mitochondrial morphology ORPHA:275872
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Gorlin Syndrome
Cryptorchidism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Dysmetria OMIM:615578
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Anosmia, Ataxia, Testicular atrophy OMIM:308750
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Decreased testicular size, Abnormality of the sense of smell OMIM:616113
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Abnormality of the sense of smell ORPHA:2189
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Anosmia OMIM:618841
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
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
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Decreased testicular size OMIM:614837
Young-Onset Parkinson Disease
Hyposmia, Gait imbalance, Impaired social interactions ORPHA:2828
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Ataxia, Gait disturbance ORPHA:391417
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size OMIM:616030
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Refsum Disease, Classic
Anosmia, Ataxia OMIM:266500
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... 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
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormality of the Leydig cells, Abnormality of the sense... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Abnormal sperm morphology... ORPHA:52901
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size OMIM:614841
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... OMIM:147250
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Mitochondrial hypertrophy OMIM:602541
Dystonia-Aphonia Syndrome
Unsteady gait, Abnormal mitochondrial shape, Gait disturbance ORPHA:412217
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia OMIM:611209
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Kallmann Syndrome
Ataxia, Cryptorchidism, Anosmia, Gait disturbance, Hyposmia, Decreased testicular size ORPHA:478
Bardet-Biedl Syndrome 17
Hyposmia, Anosmia OMIM:615994
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Refsum Disease
Anosmia, Ataxia ORPHA:773
Superficial Siderosis
Ataxia, Partial anosmia, Unsteady gait, Anosmia, Dysmetria, Limb ataxia, Progressive gait ataxia,... ORPHA:247245
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Mitochondrial hypertrophy OMIM:619518
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell ORPHA:284160
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Anosmia, Agenesis of corpus callosum ORPHA:3157
Friedreich Ataxia
Diabetes mellitus, Ataxia, Decreased pyruvate carboxylase activity, Limb ataxia, Gait ataxia OMIM:229300
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Camptodactyly OMIM:616737
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Depressed nasal bridge ORPHA:444002
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:277410
Hereditary Late-Onset Parkinson Disease
Hyposmia, Shuffling gait, Akinesia ORPHA:411602
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:251110
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
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
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Decreased testicular size, Partial anosmia, Total anosmia ORPHA:2326
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia ORPHA:2250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Cryptorchidism, Anosmia... ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
8P11.2 Deletion Syndrome
Cryptorchidism, Anosmia, Azoospermia, Depressed nasal bridge ORPHA:251066
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Unsteady gait, Decr... ORPHA:17
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume OMIM:222470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly ORPHA:487796
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Broad nasal tip ORPHA:530983
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:251100
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia ORPHA:84064
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Cryptorchidism, Difficulty walking OMIM:618653
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Anosmia, Ataxia OMIM:609136
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Meningioma
Ataxia, Difficulty walking, Abnormality of the sense of smell ORPHA:2495
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Anosmia OMIM:619718
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Waardenburg Syndrome, Type 4C
Cryptorchidism, Anosmia OMIM:613266
Fumarase Deficiency
Anteverted nares, Mitochondrial swelling, Agenesis of corpus callosum, Depressed nasal bridge OMIM:606812
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Ataxia ORPHA:68
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Anosmia, Choanal atresia, Aplasia of the nose OMIM:603457
Wilson Disease
Hyposmia OMIM:277900
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Leopard Syndrome 1
Hyposmia, Cryptorchidism, Depressed nasal ridge OMIM:151100
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:277400
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Failure to thrive, Ataxia, Gait ataxia ORPHA:255210
Fg Syndrome Type 1
Broad-based gait, Choanal atresia, Prominent nose, Cryptorchidism, Abnormal social behavior ORPHA:93932
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Ataxia, Bulbous nose, Unsteady gait, Dysmetria, Nonprogressive cereb... ORPHA:314647
Charge Syndrome
Cryptorchidism, Anosmia, Depressed nasal bridge, Choanal atresia ORPHA:138
48,Xxxy Syndrome
Cryptorchidism, Depressed nasal ridge, Azoospermia, Abnormal social behavior, Decreased testicula... ORPHA:96263
Friedreich Ataxia 2
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Anosmia, Choanal atresia ORPHA:2363
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Lateral ventricle dilatat... ORPHA:177907
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Inability to walk, Prominent nasal tip, Abnormal social... ORPHA:1675
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Abnormal social behavior, Difficulty walking ORPHA:309271
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia OMIM:605909
Charge Syndrome
Cryptorchidism, Anosmia, Choanal atresia OMIM:214800
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Koolen-De Vries Syndrome Due To A Point Mutation
Thick nasal alae, Prominent nasal bridge, Testicular neoplasm, Underdeveloped nasal alae, Cryptor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Thick nasal alae, Prominent nasal bridge, Testicular neoplasm, Underdeveloped nasal alae, Cryptor... ORPHA:363958
Mend Syndrome
Abnormal nasal bridge morphology, Cryptorchidism, Abnormal social behavior, Prominent nasal bridge ORPHA:401973
Niemann-Pick Disease Type C
Progressive gait ataxia, Abnormal social behavior, Ataxia, Gait disturbance ORPHA:646
Williams Syndrome
Ataxia, Cryptorchidism, Wide nasal bridge, Dysmetria, Gait disturbance, Gait imbalance, Short nos... 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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