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Gene: Prss53 MGI:2652890

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Gene Summary

Name:
serine protease 53
Synonyms:
BC039632

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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
increased circulating creatinine level Prss53em3(IMPC)Wtsi HOM Early adult 4.10×10-05
abnormal hair growth Prss53em2(IMPC)Wtsi HOM   Early adult 1.80×10-06
decreased leukocyte cell number Prss53em3(IMPC)Wtsi HOM Early adult 3.82×10-05
decreased circulating total protein level Prss53em3(IMPC)Wtsi HOM Early adult 9.45×10-06
decreased circulating serum albumin level Prss53em3(IMPC)Wtsi HOM Early adult 3.74×10-05
abnormal vibrissa morphology Prss53em1(IMPC)Wtsi HOM Early adult 8.65×10-17
increased body length Prss53em3(IMPC)Wtsi HOM   Early adult 1.75×10-05
absent pinna reflex Prss53em2(IMPC)Wtsi HOM Early adult 7.78×10-07

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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 Dorso Ventral

4 Images

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Anti-nuclear antibody assay

Images

3 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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Legacy Phenotype Associated Images
Prss53em1(IMPC)Wtsi
HOM, Female, WTSI
Prss53em1(IMPC)Wtsi
HOM, Female, WTSI
Prss53em1(IMPC)Wtsi
HOM, Female, WTSI
Prss53em1(IMPC)Wtsi
HOM, Male, WTSI
Prss53em1(IMPC)Wtsi
HOM, Male, WTSI

View all 20 images

Prss53em1(IMPC)Wtsi
head, abnormal vibrissa morphology, curly vibrissae, HOM, Male, WTSI
Prss53em1(IMPC)Wtsi
head, abnormal vibrissa morphology, curly vibrissae, HOM, Male, WTSI
Prss53em1(IMPC)Wtsi
head, abnormal vibrissa morphology, curly vibrissae, HOM, Female, WTSI
Prss53em2(IMPC)Wtsi
abnormal eye morphology, eye, eyelids fail to open, HOM, Female, WTSI
Prss53em1(IMPC)Wtsi
head, abnormal vibrissa morphology, curly vibrissae, HOM, Male, WTSI

View all 14 images

Human diseases caused by Prss53 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prss53 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Immunodeficiency 43
Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni... OMIM:241600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Diarrhea 13
Hypoalbuminemia OMIM:620357
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Analbuminemia
Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypopro... ORPHA:86816
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... ORPHA:167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... OMIM:615895
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... ORPHA:158048
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... ORPHA:64743
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Reni Syndrome
Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... ORPHA:540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Multiple Myeloma
Tall stature, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperpr... ORPHA:29073
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... OMIM:251880
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia OMIM:617303
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... ORPHA:36234
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal... OMIM:619991
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Increase... ORPHA:2298
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... OMIM:277900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu... ORPHA:89842
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hypoalbuminemia, Anemia, Hepatosplenomegaly OMIM:619487
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia ORPHA:85443
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Abetalipoproteinemia
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia ORPHA:505248
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ... OMIM:222470
Pierson Syndrome
Hypoproteinemia OMIM:609049
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo... OMIM:618885
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Slender build, Anemia OMIM:613658
Juvenile Polyposis Of Infancy
Refractory anemia, Hypoalbuminemia, Anemia ORPHA:79076
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration ORPHA:247691
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis ORPHA:171
Juvenile Polyposis Syndrome
Brain abscess, Hypoproteinemia, Anemia ORPHA:2929
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Smith-Lemli-Opitz Syndrome
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... OMIM:270400
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... ORPHA:340
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat... OMIM:619534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi... ORPHA:449395
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis ORPHA:79318

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 Prss53

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 Prss53.

There are 3 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) Prss53em1(IMPC)Wtsi Prss53em2(IMPC)Wtsi Prss53em3(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Prss53em1(IMPC)Wtsi Prss53Q30R Prss53Q30R PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Prss53em2Wtsi Prss53Q30R PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prss53tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prss53tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prss53tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prss53em3(IMPC)Wtsi Point Mutation Mice
Prss53em2(IMPC)Wtsi Point Mutation Mice
Prss53tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prss53em1(IMPC)Wtsi Exon Deletion Mice

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