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
decreased locomotor activity P3h2em1(IMPC)H HOM Early adult 8.26×10-05
increased circulating potassium level P3h2em1(IMPC)H HOM   Early adult 9.27×10-06
abnormal snout morphology P3h2em1(IMPC)H HET Early adult 1.32×10-09
decreased circulating fructosamine level P3h2em1(IMPC)H HOM Early adult 1.98×10-05

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
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
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
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Hyperkalemia OMIM:608885
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Liddle Syndrome 3
Hypokalemia OMIM:618126
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, Hyponatremia, ... ORPHA:682
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Familial Hypoaldosteronism
Hyponatremia, Lethargy, Hyperkalemia, Increased circulating renin level ORPHA:427
Genetic Recurrent Myoglobinuria
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Birk-Landau-Perez Syndrome
Limb ataxia, Difficulty walking, Choreoathetosis, Increased circulating creatine kinase MB isofor... OMIM:617595
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome
Hypokalemia ORPHA:526
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Lethargy OMIM:611590
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
East Syndrome
Hypomagnesemia, Hypokalemia, Inability to walk, Ataxia, Increased circulating renin level, Diffic... ORPHA:199343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Ethylene Glycol Poisoning
Ataxia, Hypocalcemia, Hyperkalemia ORPHA:31826
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Acute Adrenal Insufficiency
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:95409
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hype... ORPHA:466650
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Cystinosis
Gait disturbance, Hypophosphatemia, Hypokalemia ORPHA:213
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Athetosis OMIM:615474
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia, Lethargy ORPHA:173
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Ataxia, Dysdiadochokinesis, Increased circulating renin level OMIM:612780
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... ORPHA:168558
Addison Disease
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... ORPHA:289548
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Athetosis ORPHA:369929
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Ataxia OMIM:263800
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Mercury Poisoning
Hypokalemia ORPHA:330021
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Ataxia, Hyperalaninemia ORPHA:699
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... OMIM:219800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia ORPHA:358
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia ORPHA:534
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration OMIM:619573
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy. The Journal of clinical investigation (May 2022) P3h2tm1a(KOMP)Wtsi PMC9057608
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
P3h2em1(IMPC)H Exon Deletion Mice
P3h2em2(IMPC)H Exon Deletion Mice
P3h2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
P3h2tm92882(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
P3h2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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