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Gene: Pitrm1 MGI:1916867

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Gene Summary

Name:
pitrilysin metallepetidase 1
Synonyms:
PreP,  MP-1,  Ntup1,  2310012C15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance Pitrm1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

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

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Pitrm1tm1a(KOMP)Wtsi
HET, Female, WTSI
Pitrm1tm1a(KOMP)Wtsi
HET, Female, WTSI
Pitrm1tm1a(KOMP)Wtsi
HET, Female, WTSI
Pitrm1tm1a(KOMP)Wtsi
HET, Female, WTSI
Pitrm1tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 95 images

Human diseases caused by Pitrm1 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 Pitrm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405

The table below shows human diseases predicted to be associated to Pitrm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... OMIM:213200
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso... OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... OMIM:604484
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Amyloidosis of peripheral nerves, Prog... ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gai... ORPHA:157941
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct... OMIM:604218
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Clonus, Gliosis, Tetraplegia, Neuronal loss in central ner... OMIM:614959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... OMIM:105550
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo... ORPHA:98762
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Lewy bodies, Myoclonus, Rigidity, Loss of a... OMIM:168601
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron... OMIM:256600
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spastic tetr... OMIM:612936
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis, Hemiparesis OMIM:613002
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, A... OMIM:221770
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c... OMIM:612319
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Supranuclear Palsy, Progressive, 1
Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dys... OMIM:601104
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Lethargy, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Gliosis, Hypertonia OMIM:225753
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Inability to walk, Gliosis, Ataxia, Cerebellar gliosis, Dystonia, Basal ganglia... ORPHA:79243
Leigh Syndrome, Nuclear
Dystonia, Spasticity, Gliosis, Ataxia OMIM:256000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Gliosis, Ataxia OMIM:169500
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Lewy bodi... OMIM:600116
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro... OMIM:615157
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Lower limb spasticity, Gliosis, Ataxia, Tit... ORPHA:280210
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Lethar... OMIM:618321
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Neuronal lo... ORPHA:683
Hemimegalencephaly
Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Dystonia, Gait disturbance, Oroma... OMIM:615643
Tay-Sachs Disease
Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Lary... ORPHA:845
Supranuclear Palsy, Progressive, 2
Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dys... OMIM:609454
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Lewy bodies, Rigidity, Dysto... ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Gliosis, Hypertonia OMIM:615095
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Chorea, Opisthotonus, Gliosis, Dystonia, Extrapyramidal dyskinesia OMIM:277470
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis OMIM:300957
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms, Hypertonia, Gliosis, Neuronal... OMIM:614498
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Upper limb spasticity ORPHA:457240
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Limb dystonia, Lethargy, Gliosis, Neuronal l... OMIM:604377
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Spasticity, Cerebellar atrophy, Gliosis ORPHA:168486
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Inability to walk, Diffuse cerebral atrophy... OMIM:617193
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Cerebral palsy, Cerebral atrophy, Myoclonus, Limb dystonia, Opisthotonus, Babinski si... OMIM:619847
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Cho... OMIM:610217
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Cerebellar atrophy, Difficulty walking, Gait ataxia, Myoclonus, Appendicular spasticity, ... OMIM:620451
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Lewy bodies, Tremor, Abn... OMIM:614298
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lewy bodies, Apraxia, Parkinsonism, Gliosis, ... OMIM:607485
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Neurodegeneration, Diffuse cerebral atrophy, Gliosis, Brain atrophy OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Difficulty walking, Ankle clonus, Gliosis, Dystonia, Hypercapnia OMIM:618222
Familial Acute Necrotizing Encephalopathy
Spasticity, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia ORPHA:88619
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:248500
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous system OMIM:616239
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Amyloidosis, Hem... OMIM:105210
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Gliosis, Vestibular areflexia, Spastic tetraplegia ORPHA:3240
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Diffuse cerebral atro... OMIM:614946
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Spastic tetraplegia, Tetraplegia, Hypertonia OMIM:608033
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Neurofibrillary tangles, Ataxia, Intention tremor, Cerebral amyloid angiopathy OMIM:117300
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski s... OMIM:301072
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism, Neurofibrillary tangles OMIM:606688
Leigh Syndrome
Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Abnormality of extrapyramidal moto... ORPHA:506
Lissencephaly, X-Linked, 2
Spasticity, Gliosis OMIM:300215
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Cerebellar atrophy, Somatic sensory dysfunction, Resting tremor,... ORPHA:909
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodegeneration, Astrocyt... OMIM:203700
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal... ORPHA:309246
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dysmetria, ... ORPHA:217260
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Dystonia, Paralysis, Abnormal pyramidal sign, Hypert... OMIM:272750
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Myoclonus, Action tremor, Hyperk... ORPHA:404454
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia ORPHA:31
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Cerebral cortical atrophy, Decreased methylmalonyl-CoA mutase activity, Lethargy, Spastic ataxia,... OMIM:277410
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkine... OMIM:615273
Molybdenum Cofactor Deficiency, Type B
Cerebral atrophy, Diffuse cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms, Hypertonia, ... OMIM:252160
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis ORPHA:26791
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati... OMIM:234200
Molybdenum Cofactor Deficiency, Type A
Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia OMIM:252150
Cockayne Syndrome
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Cerebral atrophy, Difficulty walking... ORPHA:191
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Tremor, Rigidity, Hypertonia, Cerebral amyloid angiopathy OMIM:176500
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Spastic tetraparesis, Inability to walk, Limb hypertonia, Gliosis, Corpus callosum at... OMIM:620371
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Cerebellar atrophy, Cerebral atrophy, Gliosis, Ataxia OMIM:124000
Alzheimer Disease 4
Senile plaques, Apraxia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Myeloma, Multiple
Amyloidosis OMIM:254500
Amyloidosis, Hereditary Systemic 2
Generalized amyloid deposition, Renal amyloidosis OMIM:105200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, Broad-based gait, Gait disturbance, Gliosis, Hypertonia, Ataxia ORPHA:268261
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Tremor, Dysmetria, Gliosis, Ataxia, Truncal ataxia, Dystonia OMIM:220111
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
D-Bifunctional Protein Deficiency
Corpus callosum atrophy, Gliosis, Cerebellar atrophy OMIM:261515
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Spasticity, Lower limb spasticity, Gliosis, Neuronal loss in central n... OMIM:300868
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Papillorenal Syndrome
Gliosis OMIM:120330
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Gabriele-De Vries Syndrome
Dystonia, Gliosis, Tremor, Waddling gait ORPHA:506358
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Chorea, Gait ataxia, Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia, Dystonia ORPHA:255210
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Spasticity, Neurodegeneration, Gliosis, Hypertonia, Spastic tetraparesis OMIM:620455
Cerebral Amyloid Angiopathy, App-Related
Paresthesia, Cerebral amyloid angiopathy OMIM:605714
Helsmoortel-Van Der Aa Syndrome
Gliosis OMIM:615873
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis ORPHA:439232
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Amyloidosis, Finnish Type
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis OMIM:105120
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Q Fever
Amyloidosis ORPHA:781
Familial Mediterranean Fever
Renal amyloidosis, Amyloidosis OMIM:249100
Familial Mediterranean Fever
Amyloidosis ORPHA:342
Alkaptonuria
Amyloidosis ORPHA:56

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 Pitrm1

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 Pitrm1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pitrm1tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Pitrm1tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pitrm1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pitrm1tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pitrm1tm1a(KOMP)Wtsi PMC5827107
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO molecular medicine (March 2016) Pitrm1tm1a(KOMP)Wtsi PMC4772954

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MGI Allele Allele Type Produced
Pitrm1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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