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 2.04×10-05
decreased bone mineral density Pink1tm1b(EUCOMM)Wtsi HOM Early adult 1.39×10-07
decreased mean platelet volume Pink1tm1b(EUCOMM)Wtsi HOM   Early adult 3.69×10-05

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

25 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
Impaired social interactions, Dystonia, Bradykinesia, Hyposmia, Gait imbalance ORPHA:2828
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, 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
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Torticollis, Hyposmia, Leukoencephalopathy OMIM:613724
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Osteoporosis
Osteoporosis OMIM:166710
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Huntington Disease
Inability to walk, Dystonia, Difficulty walking, Abnormal cerebral white matter morphology, Cereb... ORPHA:399
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Depressed nasa... OMIM:618378
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia, Azoospermia OMIM:614897
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Hypoplasia of the corpus callosum, Gait disturbance, Decreased activity of the py... OMIM:616859
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Gait disturbance, Decreased mitochondrial number ORPHA:352470
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Bradykinesia, Increased mitochondrial number OMIM:619063
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Spastic Paraplegia Type 7
Abnormal cerebral white matter morphology, Cerebral cortical atrophy, Spastic gait, Abnormal mito... ORPHA:99013
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Deviated nasal septum, Wide nasal bridge OMIM:600679
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Microcephaly, Short nasal septum, Depressed nasal bridge OMIM:302950
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Decreased activity of mitochondrial complex III, Difficulty walking, Decrease... OMIM:500013
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia, Small pituitary gland OMIM:612702
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoplasia of the corpus callosum, Abnormal mitochondrial morphology OMIM:618528
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia OMIM:614879
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital
Anosmia OMIM:301700
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Substantia nigra gliosis, Lewy bodies, Bradykinesia OMIM:607060
Kufor-Rakeb Syndrome
Dystonia, Akinesia, Gait disturbance, Anosmia, Ataxia, Bradykinesia, Torticollis, Hyposmia OMIM:606693
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Musk, Inability To Smell
Anosmia OMIM:254150
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Neuronal loss in the cerebral cortex, Abnormal mitochondrial morph... ORPHA:275872
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia cysts, Episodic ataxia, Lethargy, Cerebral atrophy, Wide nasal bridge, Fl... OMIM:312170
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Difficulty walking, Abnormality of the mitochondrion, Oculogyric cri... ORPHA:330050
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Azoospermia, Gonadotropin deficiency OMIM:614837
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Anosmia, Ataxia, Olfactory lobe agenesis, Hypothalamic gonadotropin-releasing hormon... OMIM:308700
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Ataxia, Abnorma... ORPHA:543470
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Gorlin Syndrome
Abnormality of the sense of smell, Cerebral calcification, Wide nasal bridge ORPHA:377
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Anosmia, Midnasal s... OMIM:147250
Dystonia-Aphonia Syndrome
Gait disturbance, Cerebral atrophy, Unsteady gait, Abnormal mitochondrial shape, Generalized dyst... ORPHA:412217
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Agenesis of corpus callosum OMIM:147950
Hydrolethalus
Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnormality of the sense of smell, Agenes... ORPHA:2189
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy, Microcephaly... ORPHA:391417
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Young-Onset Parkinson Disease
Impaired social interactions, Dystonia, Bradykinesia, Hyposmia, Gait imbalance ORPHA:2828
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell ORPHA:3201
Kallmann Syndrome With Spastic Paraplegia
Olfactory lobe agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Ataxia OMIM:308750
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia OMIM:618841
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia OMIM:610628
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Anosmia OMIM:601152
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Refsum Disease, Classic
Anosmia, Ataxia OMIM:266500
Hereditary Late-Onset Parkinson Disease
Dystonia, Akinesia, Lewy bodies, Bradykinesia, Cerebral cortical atrophy, Hyposmia, Shuffling gait ORPHA:411602
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Johnson Neuroectodermal Syndrome
Microcephaly, Anosmia, Choanal atresia, Bulbous nose ORPHA:2316
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Abnormal mitochondrial shape, Secondary microcephaly, Abn... ORPHA:485421
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Kallmann Syndrome
Gait disturbance, Anosmia, Ataxia, Hypothalamic gonadotropin-releasing hormone deficiency, Hyposm... ORPHA:478
Johnson Neuroectodermal Syndrome
Microcephaly, Anosmia, Choanal stenosis OMIM:147770
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Dystonia, Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Refsum Disease
Anosmia, Ataxia ORPHA:773
Superficial Siderosis
Dysdiadochokinesis, Progressive gait ataxia, Limb ataxia, Anosmia, Ataxia, Abnormal corpus callos... ORPHA:247245
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal social behavior, Gait disturb... ORPHA:255
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Abnormal respiratory motile cilium morphology, Chronic rhinitis OMIM:244400
Friedreich Ataxia
Gait ataxia, Limb ataxia, Ataxia, Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Septo-Optic Dysplasia Spectrum
Absent septum pellucidum, Anosmia, Anterior pituitary hypoplasia, Septo-optic dysplasia, Agenesis... ORPHA:3157
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Aplasia/Hypoplasia of the corpus callosum, Underdeveloped nasa... ORPHA:284160
Pyruvate Dehydrogenase E2 Deficiency
Microcephaly, Paroxysmal dystonia, Decreased activity of the pyruvate dehydrogenase complex, Ataxia OMIM:245348
Lathosterolosis
Osteoporosis, Increased mean platelet volume, Anisopoikilocytosis, Pathologic fracture, Acanthocy... OMIM:607330
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Microcephaly, Decreased mitochondrial number ORPHA:352447
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level... OMIM:605373
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Gait disturbance, Abnormality of mitochondrial metabolism ORPHA:1192
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphology, Acute... ORPHA:3318
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Poor eye contact, Attention deficit ... ORPHA:444002
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Camptodactyly, Increased mean platelet volume OMIM:616737
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, P... OMIM:615330
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Congenital Hypothyroidism
Anosmia, Anterior hypopituitarism, Depressed nasal ridge ORPHA:442
Meningioma
Focal T2 hypointense thalamic lesion, Difficulty walking, Enlarged pituitary gland, Hypothalamic ... ORPHA:2495
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ataxia, Periventricul... ORPHA:255138
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Holoprosencephaly
Panhypopituitarism, Dystonia, Depressed nasal tip, Aplasia/Hypoplasia of the corpus callosum, Ano... ORPHA:2162
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Amoebiasis Due To Free-Living Amoebae
Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Ataxia, En... ORPHA:68
Manganese Poisoning
Dystonia, Akinesia, Gait disturbance, Bradykinesia, Abnormality of mitochondrial metabolism, Abno... ORPHA:306682
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Single naris, Hypoplasia of the olfactory bulb, Absent nares ORPHA:2250
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Small basal ganglia, Leukoen... ORPHA:88639
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Decreased activity of mitochondrial complex III, Cerebral atrophy, Decreased activity o... ORPHA:17
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Broad nasal tip, Hyperactivity, Microcephaly ORPHA:530983
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Anosmia, Ataxia OMIM:609136
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
8P11.2 Deletion Syndrome
Microcephaly, Anosmia, Azoospermia, Depressed nasal bridge ORPHA:251066
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Hsd10 Disease, Infantile Type
Dystonia, Cerebral atrophy, Loss of ability to walk, Frontotemporal cerebral atrophy, Abnormality... ORPHA:391428
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, Ab... OMIM:255125
Ichthyosis And Male Hypogonadism
Anosmia, Gonadotropin deficiency OMIM:308200
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly ORPHA:84064
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Hypoplasia of the corpus callosum, Hyposmia, Microcephaly OMIM:618653
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity ORPHA:101039
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Bulbous nose, Hypoplastic hippocampus, Abnormal social behavior, Ataxia, Cerebral cortical atroph... ORPHA:314647
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Camptodactyly, Flexion contracture, Increased mean platelet volume ORPHA:487796
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles, Ataxia, Abnormal social behavior ORPHA:1020
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Ab... ORPHA:309256
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion, Abnormal cerebral white matter morphology, Leukoencephalopathy ORPHA:298
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Abnormality of Krebs cycle metabolism, Ataxia, Failure to thrive ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:277400
Occipital Horn Syndrome
Abnormality of the sense of smell, Cerebral calcification ORPHA:198
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Reticular Dysgenesis
Abnormality of mitochondrial metabolism ORPHA:33355
Sialuria
Abnormality of the mitochondrion, Attention deficit hyperactivity disorder, Wide nasal bridge ORPHA:3166
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6, Abnormality of serum cytokine level, Increased serum interfe... ORPHA:542323
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia OMIM:603457
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Charge Syndrome
Anosmia, Choanal atresia, Microcephaly, Anterior hypopituitarism, Attention deficit hyperactivity... ORPHA:138
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Friedreich Ataxia 2
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Diabetic ketoacidosis, Steppage gait, Diabetes mellitus, Decreased pyruvate carboxylase a... OMIM:302900
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity OMIM:229310
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior, Small pituitary gland, Choan... ORPHA:93932
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Wide nasal bridge, Leukoencephalopathy, Abnormality of mitochondrial metabolism, Antevert... OMIM:614052
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior, Dystonia, Punctate periventricular T2 hyperint... ORPHA:309263
48,Xxxy Syndrome
Abnormal social behavior, Azoospermia, Attention deficit hyperactivity disorder, Depressed nasal ... ORPHA:96263
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Cerebral atrophy, Prominent nasal tip, Hyperintensit... ORPHA:1675
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Ataxia, Dilated third ventricle, Abn... ORPHA:314404
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Short nose, Abnormal social behavior, Anterior pituitary hypoplasia... ORPHA:177907
Autosomal Dominant Progressive External Ophthalmoplegia
Lethargy, Gait ataxia, Abnormality of the mitochondrion, Gait disturbance, Ataxia, Bradykinesia, ... ORPHA:254892
Charge Syndrome
Gonadotropin deficiency, Arrhinencephaly, Anosmia, Choanal atresia, Microcephaly, Posterior choan... OMIM:214800
Metachromatic Leukodystrophy, Adult Form
Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abnormal social... ORPHA:309271
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion OMIM:214110
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:64280
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of mitochondrial metabolism, Cerebral cortical neurodegeneration, Ataxia OMIM:203700
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Elevated circulating catecho... ORPHA:892
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Overfriendliness, Bulbous nose, Underdeveloped nasal alae, Hypoplasia of the co... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Overfriendliness, Bulbous nose, Underdeveloped nasal alae, Hypoplasia of the co... ORPHA:363958
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Frontal cortical atrophy, Progressive gait ataxia, Hypoplasia of the co... ORPHA:646
Mend Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Hyperactivity, Prominent nasal bridg... ORPHA:401973
Tuberous Sclerosis Complex
Abnormal social behavior, Cortical dysplasia, Cortical tubers, Hyperactivity, Attention deficit h... ORPHA:805
Williams Syndrome
Overfriendliness, Short nose, Abnormal social behavior, Gait disturbance, Ataxia, Wide nasal brid... ORPHA:904
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, 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 2 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
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) Targeting vectors, 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 (post-Cre) Mice

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