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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.

Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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DSS Histology

Images

8 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, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy 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
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... OMIM:607136
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Spas... OMIM:213200
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... OMIM:221820
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degeneration of anterio... OMIM:604484
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual ... OMIM:109150
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... OMIM:604218
Developmental And Epileptic Encephalopathy 14
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... OMIM:614959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Basal ganglia gliosis, Global brain a... OMIM:603218
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... OMIM:612936
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Gait ataxia, Choreo... ORPHA:225154
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, Gliosis OMIM:613002
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Gait disturbance, Myoclonus, Gliosis, Apraxia, ... OMIM:221770
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Gliosis, Dystonia, Neuronal ... ORPHA:683
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... OMIM:615889
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Neurofibrillary tangles... OMIM:601104
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... ORPHA:98759
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Gait disturbance, Gliosis, Lethargy, Spasticity OMIM:603896
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Cerebral atrophy, Gliosis, Dystonia, Basal ganglia... ORPHA:79243
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Gliosis, Myoclonus OMIM:225753
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a... OMIM:615157
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... ORPHA:280210
Hemimegalencephaly
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology ORPHA:99802
Leigh Syndrome
Spasticity, Ataxia, Gliosis, Dystonia OMIM:256000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode... OMIM:618321
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen... OMIM:615643
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Neurofibrillar... OMIM:609454
Hereditary Late-Onset Parkinson Disease
Resting tremor, Lewy bodies, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling g... ORPHA:411602
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia, Cerebral cortical atrophy OMIM:277470
Intellectual Developmental Disorder, X-Linked 12
Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Spasticity OMIM:300957
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethargy, Basal gang... OMIM:604377
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ... OMIM:614498
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis ORPHA:457240
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Spasticity, Gliosis, Abnormal astrocyte morphology ORPHA:168486
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, U... OMIM:617193
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hyper... OMIM:619847
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Dysmetria, Gait ataxia, Brady... OMIM:610217
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Distal sensory ... OMIM:616505
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Parkinsonism, Neurofibrillary tangles, Gliosis, Apraxia, Neuronal loss in central ne... OMIM:607485
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypercapnia, Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia OMIM:618222
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Gliosis, Brain atrophy OMIM:214150
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia,... OMIM:248500
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in central nervous system OMIM:616239
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Amyloidosis, Posit... OMIM:105210
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Myoclonus, Atrophy/Degen... OMIM:614946
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Gliosis, Dy... ORPHA:3240
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor OMIM:117300
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Postural tremor, Ataxia, Babinski sign, Lower limb hypertonia, Gliosis, Myocl... OMIM:301072
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Gliosis, Parkinsonism OMIM:606688
Leigh Syndrome
Cerebellar atrophy, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Ath... ORPHA:506
Lissencephaly, X-Linked, 2
Spasticity, Gliosis OMIM:300215
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, ... ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... ORPHA:83629
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia ORPHA:31
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Athetosis, Hyperkinetic movement... ORPHA:404454
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Dystonia, Lethargy, Cerebral cortica... OMIM:277410
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Gliosi... OMIM:252160
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis ORPHA:26791
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms OMIM:252150
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Action tremor, Inability to walk, Cerebr... ORPHA:191
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
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
Cerebellar atrophy, Ataxia, Cerebral atrophy, Gliosis, Spasticity OMIM:124000
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy, Senile plaques, Apraxia OMIM:606889
Myeloma, Multiple
Amyloidosis OMIM:254500
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Hypertonia, Gait disturbance, Gliosis, Cerebral cortical atrophy ORPHA:268261
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Tremor, Dysmetria, Gliosis, Truncal ataxia, Spasticity OMIM:220111
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Upper limb spasticity, Gliosis, Spasticity, Neuronal loss in central nervo... OMIM:300868
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Gliosis OMIM:261515
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Papillorenal Syndrome
Gliosis OMIM:120330
Gabriele-De Vries Syndrome
Waddling gait, Gliosis, Tremor, Dystonia ORPHA:506358
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Gait ataxia, Hypertonia, Dystonia, Spasticity ORPHA:255210
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Cerebral Amyloid Angiopathy, App-Related
Paresthesia, Cerebral amyloid angiopathy OMIM:605714
Helsmoortel-Van Der Aa Syndrome
Gliosis OMIM:615873
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis ORPHA:439232
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
Amyloidosis, Renal amyloidosis OMIM:249100
Primary Sclerosing Cholangitis
Amyloidosis ORPHA:171

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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