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Gene: Ppox MGI:104968

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Gene Summary

Name:
protoporphyrinogen oxidase
Synonyms:
N/A

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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 Ppoxem1(IMPC)J HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Ppoxem1(IMPC)J HOM   E12.5 0.00
abnormal embryo size Ppoxem1(IMPC)J HOM E9.5 0.00
abnormal auditory brainstem response Ppoxem1(IMPC)J HET   Early adult 1.38×10-05
embryonic growth retardation Ppoxem1(IMPC)J HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Variegate Porphyria
Vomiting, Constipation, Porphyrinuria OMIM:176200
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Elevated hepatic transaminase, Constipation, Nausea, Chronic k... ORPHA:79473

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Essential Fructosuria
Abnormal enzyme/coenzyme activity, Abnormal erythrocyte enzyme level, Abnormal urine carbohydrate... ORPHA:2056
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Prolinuria, Reduced 5-oxoprolinase level, Diarrhea, Vomiting, In... OMIM:260005
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Rotor Syndrome
Bilirubinuria, Jaundice, Intermittent jaundice, Abnormal enzyme/coenzyme activity, Porphyrinuria ORPHA:3111
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Variegate Porphyria
Vomiting, Constipation, Porphyrinuria OMIM:176200
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Reduced xanthine dehydroge... OMIM:278300
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Elevated hepatic transaminase, Constipation, Nausea, Chronic k... ORPHA:79473
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973

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 Ppox

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 Ppox.

No publications found that use IMPC mice or data for Ppox.

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MGI Allele Allele Type Produced
Ppoxtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ppoxem1(IMPC)J Exon Deletion Mice
Ppoxtm459307(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) Targeting vectors

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