Gene Summary

Name:
prolyl 3-hydroxylase 2
Synonyms:
Leprel1

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
abnormal snout morphology P3h2em1(IMPC)H HET Early adult 1.61×10-09
hypoactivity P3h2em1(IMPC)H HOM Early adult 2.86×10-07
increased circulating potassium level P3h2em1(IMPC)H HOM   Early adult 9.67×10-06
decreased circulating fructosamine level P3h2em1(IMPC)H HOM Early adult 1.99×10-05

Download data as:  TSV  XLS

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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 Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Human diseases caused by P3h2 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 P3h2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopia, High, With Cataract And Vitreoretinal Degeneration
OMIM:614292

The table below shows human diseases predicted to be associated to P3h2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Birk-Landau-Perez Syndrome
Difficulty walking, Dystonia, Hyperkalemia, Ataxia OMIM:617595
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hyperkalemia, Ataxia OMIM:608885
Liddle Syndrome 3
Hypokalemia OMIM:618126
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hyperkalemic Periodic Paralysis
Gait disturbance, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, ... ORPHA:682
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Familial Hypoaldosteronism
Hyperkalemia, Lethargy, Hyponatremia, Increased circulating renin level ORPHA:427
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Liddle Syndrome
Hypokalemia ORPHA:526
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Lethargy OMIM:611590
East Syndrome
Inability to walk, Difficulty walking, Ataxia, Increased circulating renin level, Hypokalemia, Hy... ORPHA:199343
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia OMIM:304900
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Ataxia ORPHA:31826
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Athetosis, Hypokalemia OMIM:615474
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Cystinosis
Hypophosphatemia, Gait disturbance, Hypokalemia ORPHA:213
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:85138
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Ataxia, Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:612780
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
Mercury Poisoning
Dystonia, Hypokalemia ORPHA:330021
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypokalemia ORPHA:369929
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Cushing Disease
Hypokalemia, Lethargy ORPHA:96253
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Ataxia, Increased circulating renin level OMIM:263800
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Ataxia, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hypokalemia, Attention defic... ORPHA:534
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ... ORPHA:466677
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Proximal Renal Tubular Acidosis
Hyperuricosuria, Hypokalemia, Bicarbonaturia ORPHA:47159
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Nelson Syndrome
Hypokalemia ORPHA:199244
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
Cushing Syndrome Due To Ectopic Acth Secretion
Hypokalemia ORPHA:99889
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Myopia, High, With Cataract And Vitreoretinal Degeneration
OMIM:614292

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 P3h2

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 P3h2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. The Journal of biological chemistry (February 2015) P3h2tm1c(KOMP)Wtsi P3h2tm1a(KOMP)Wtsi P3h2tm1d(KOMP)Wtsi PMC4375510

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MGI Allele Allele Type Produced
P3h2em2(IMPC)H Exon Deletion Mice
P3h2tm92882(L1L2_Pgk_P) Targeting vectors
P3h2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
P3h2em1(IMPC)H Exon Deletion Mice

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