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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
embryonic lethality prior to tooth bud stage Ppoxem1(IMPC)J HOM   E12.5 0.00
increased circulating alanine transaminase level Ppoxem1(IMPC)J HET Early adult 2.84×10-08
embryonic growth retardation Ppoxem1(IMPC)J HOM E9.5 0.00
increased circulating phosphate level Ppoxem1(IMPC)J HET Early adult 1.99×10-08
abnormal auditory brainstem response Ppoxem1(IMPC)J HET   Early adult 2.11×10-05
preweaning lethality, complete penetrance Ppoxem1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Ppoxem1(IMPC)J HOM E9.5 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.

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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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
Constipation, Porphyrinuria, Vomiting OMIM:176200
Porphyria Variegata
Ileus, Nausea, Constipation, Chronic kidney disease, Increased urinary porphobilinogen, Abnormal ... ORPHA:79473

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Essential Fructosuria
Abnormal enzyme/coenzyme activity, Abnormal erythrocyte enzyme level, Abnormal urine carbohydrate... ORPHA:2056
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced 5-oxoprolinase level, Vomiting, Prolinur... OMIM:260005
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia, Hearing impairment OMIM:614207
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Rotor Syndrome
Bilirubinuria, Jaundice, Abnormal enzyme/coenzyme activity, Intermittent jaundice, Porphyrinuria ORPHA:3111
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Low-set ears, Hypocalcemia, Hyperphosphatemia, Posteriorly rotated ears OMIM:241410
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Crystalluria, Increased pho... ORPHA:411536
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Hearing im... OMIM:239000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Hyperuric... ORPHA:94093
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Papilledema OMIM:127000
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Hearing impairment ORPHA:457059
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Optic atrophy ORPHA:428
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy, Hearing impairment OMIM:101800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529799
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Variegate Porphyria
Constipation, Porphyrinuria, Vomiting OMIM:176200
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Sensorineural hearing impairment, Hypocalcemia, Calcinosis, Hyperphosphate... ORPHA:79443
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Papilledema ORPHA:93325
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Increased circulating ferritin concent... ORPHA:3240
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia, Hearing impairment OMIM:156400
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures, Hearing impairment OMIM:277440
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Alport Syndrome 3, Autosomal Dominant
Sensorineural hearing impairment, Hypophosphatemia, Azotemia OMIM:104200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Raine Syndrome
Low-set ears, Posteriorly rotated ears, Mixed hearing impairment, Hypophosphatemia, Protruding ear OMIM:259775
Opsismodysplasia
Hypophosphatemia OMIM:258480
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Dent Disease 1
Hypophosphatemia OMIM:300009
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Cockayne Syndrome Type 1
Hearing impairment, Increased blood urea nitrogen, Macrotia, Absent brainstem auditory responses,... ORPHA:90321
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia ORPHA:411629
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Hearing impairment ORPHA:249
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Mccune-Albright Syndrome
Hypophosphatemia, Hearing impairment ORPHA:562
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Porphyria Variegata
Ileus, Nausea, Constipation, Chronic kidney disease, Increased urinary porphobilinogen, Abnormal ... ORPHA:79473
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia, Hearing impairment ORPHA:699
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Optic nerve compression, Hearing impairment ORPHA:667
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Sensorineural hearing impairment, Hypophosphatemic rickets ORPHA:289176
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, EEG abnormality, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Low-set, posteri... ORPHA:534
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Hypophosphatemia OMIM:219800
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia ORPHA:89936
Cockayne Syndrome B
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... OMIM:133540
Cockayne Syndrome A
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... OMIM:216400
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437

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
Ppoxem1(IMPC)J Exon Deletion Mice
Ppoxtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ppoxtm459307(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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