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 content Pink1tm1b(EUCOMM)Wtsi HOM Early adult 2.21×10-05
decreased bone mineral density Pink1tm1b(EUCOMM)Wtsi HOM Early adult 3.36×10-07
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 0.67% (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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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

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
Gait imbalance, Hyposmia, 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
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... 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
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint... OMIM:313900
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Delayed speech and language development... OMIM:618378
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
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
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
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Bernard-Soulier Syndrome
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... OMIM:231200
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Hsd10 Mitochondrial Disease
Delayed speech and language development, Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Decreased activity of mitochondrial complex III, Decreased activity of mitoch... OMIM:500013
Huntington Disease
Gait imbalance, Inability to walk, Gait disturbance, Difficulty walking, Speech articulation diff... ORPHA:399
Myh9-Related Disease
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... ORPHA:182050
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... OMIM:231095
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia OMIM:614879
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Bifid nose, Hyposmia OMIM:614838
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Musk, Inability To Smell
Anosmia OMIM:254150
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hyposmia OMIM:613724
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Combined Oxidative Phosphorylation Deficiency 18
Delayed speech and language development, Dysmetria, Decreased activity of mitochondrial complex I... OMIM:615578
Spastic Paraplegia Type 7
Spastic gait, Abnormal mitochondrial morphology ORPHA:99013
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose OMIM:302950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Aural Atresia, Congenital
Hyposmia OMIM:607842
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum, Anosmia, Hyposmia, Choanal atresia OMIM:147950
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Abnormality of the mitochondrion, Absent speech ORPHA:330050
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Sitosterolemia 1
Stomatocytosis, Anemia, Arthritis, Reticulocytosis, Impaired platelet aggregation, Episodic hemol... OMIM:210250
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal mitochondrial morphology ORPHA:275872
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Kufor-Rakeb Syndrome
Akinesia, Hyposmia, Gait disturbance, Ataxia, Anosmia OMIM:606693
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Azoospermia, Hyposmia OMIM:614897
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Ataxia, Azoospermia, Hyposmia OMIM:308700
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
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Refsum Disease, Classic
Anosmia, Ataxia OMIM:266500
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase... 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
Young-Onset Parkinson Disease
Gait imbalance, Hyposmia, Impaired social interactions ORPHA:2828
Solitary Median Maxillary Central Incisor
Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... OMIM:147250
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Anosmia, Short nose ORPHA:1295
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Ataxia OMIM:308750
Barth Syndrome
Recurrent bronchitis, Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Camptodactyly, Osteopenia, Giant platelets, Thrombocytopenia OMIM:611209
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Azoospermia OMIM:614837
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Ciliary Dyskinesia, Primary, 1
Recurrent bronchitis, Nasal polyposis, Chronic rhinitis, Anosmia, Absent outer dynein arms OMIM:244400
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Oligospermia, Azoospermia, Anosmia ORPHA:52901
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell, Azoospermia OMIM:228300
Paragangliomas 1
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... OMIM:168000
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Refsum Disease
Anosmia, Ataxia ORPHA:773
Dystonia-Aphonia Syndrome
Unsteady gait, Gait disturbance, Abnormal mitochondrial shape ORPHA:412217
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Paragangliomas 3
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... OMIM:605373
Lathosterolosis
Anisopoikilocytosis, Hepatosplenomegaly, Osteoporosis, Schistocytosis, Pathologic fracture, Incre... OMIM:607330
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia OMIM:147770
Superficial Siderosis
Dysdiadochokinesis, Progressive gait ataxia, Limb ataxia, Ataxia, Dysmetria, Partial anosmia, Ano... ORPHA:247245
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Mitochondrial hypertrophy OMIM:619518
Kallmann Syndrome
Ataxia, Anosmia, Hyposmia, Gait disturbance ORPHA:478
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Delayed speech and language development, Abnormal mitochondrial shape, Ataxia ORPHA:543470
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Camptodactyly, Increased mean platelet volume OMIM:616737
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Friedreich Ataxia
Gait ataxia, Decreased pyruvate carboxylase activity, Limb ataxia, Ataxia, Diabetes mellitus OMIM:229300
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Septo-Optic Dysplasia Spectrum
Anosmia, Agenesis of corpus callosum ORPHA:3157
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Hereditary Late-Onset Parkinson Disease
Akinesia, Shuffling gait, Hyposmia ORPHA:411602
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Lethargy, Spastic ataxia OMIM:277410
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal nonverbal communicative behavior, Abnormal mitochondrial shape ORPHA:485421
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Holoprosencephaly
Absent nares, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Anosmia, An... ORPHA:2162
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Choreoathetosis, Decreased activity of mitochondrial complex III, D... ORPHA:17
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Azoospermia ORPHA:251066
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anosmia, Hyposmia ORPHA:2250
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed speech and language development, Difficulty walking, Hyposmia OMIM:618653
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Splenomegaly OMIM:222470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Flexion contracture, Camptodactyly, Increased mean platelet volume ORPHA:487796
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Meningioma
Abnormality of the sense of smell, Difficulty walking, Ataxia ORPHA:2495
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Ataxia OMIM:609136
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:542323
Amoebiasis Due To Free-Living Amoebae
Ataxia, Hyposmia ORPHA:68
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Sialuria
Abnormality of the mitochondrion, Wide nasal bridge, Expressive language delay ORPHA:3166
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Wilson Disease
Hyposmia OMIM:277900
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Aplasia of the nose, Choanal atresia OMIM:603457
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy OMIM:277400
Mitochondrial Dna-Associated Leigh Syndrome
Gait ataxia, Failure to thrive, Abnormality of Krebs cycle metabolism, Ataxia ORPHA:255210
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion ORPHA:298
Charge Syndrome
Depressed nasal bridge, Anosmia, Choanal atresia ORPHA:138
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Friedreich Ataxia 2
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Ataxia OMIM:601992
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion OMIM:214110
Autosomal Dominant Progressive External Ophthalmoplegia
Gait ataxia, Gait disturbance, Abnormality of the mitochondrion, Ataxia ORPHA:254892
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet cell adeno... ORPHA:892
Charge Syndrome
Anosmia, Choanal atresia OMIM:214800
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia OMIM:605909

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

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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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