Gene Summary

Name:
phosphatidylserine synthase 1
Synonyms:
PtdSer Synthase-1,  PSS-1

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
increased prepulse inhibition Ptdss1tm1b(EUCOMM)Hmgu HOM   Early adult 2.09×10-05
decreased large unstained cell number Ptdss1tm1b(EUCOMM)Hmgu HOM   Early adult 7.25×10-05
increased circulating calcium level Ptdss1tm1b(EUCOMM)Hmgu HOM Early adult 1.58×10-13

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Ptdss1 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 Ptdss1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lenz-Majewski Hyperostotic Dwarfism
ORPHA:2658
Lenz-Majewski Hyperostotic Dwarfism
OMIM:151050

The table below shows human diseases predicted to be associated to Ptdss1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra... OMIM:614028
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Immunodeficiency 40
Lymphopenia OMIM:616433
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Immunodeficiency 8
Lymphopenia OMIM:615401
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Mastocytosis
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hyperuricemia, Hypercalcemia ORPHA:199299
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Acute Adrenal Insufficiency
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... ORPHA:95409
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... ORPHA:88673
Albers-Sch├Ânberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Highly elevated creati... ORPHA:99845
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation ORPHA:47
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Addison Disease
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... ORPHA:85138
Pheochromocytoma
Hypercalcemia OMIM:171300
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Timothy Syndrome
Hypocalcemia OMIM:601005
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Vipoma
Hypokalemia, Normochromic anemia, Hypercalcemia ORPHA:97282
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Glucagonoma
Hypercalcemia, Normochromic anemia, Acanthocytosis ORPHA:97280
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypercalcemia, Periapical tooth abscess ORPHA:437
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Fatigable weakness, Hyperphosphatemia, Hypocalcemia ORPHA:428
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... ORPHA:36234
Ppoma
Hypercalcemia ORPHA:97278
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Grfoma
Hypercalcemia ORPHA:97261
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia, Increased T ... ORPHA:797
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Hypocalcemia, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Pearson Syndrome
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Reticuloc... ORPHA:699
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Williams Syndrome
Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating lipid con... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Elliptocytosis, Pan... ORPHA:2785
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Leukocytosis, Brain abscess, Hemolytic anemia, Hyponatremia, Thrombocytopenia, Hype... ORPHA:544482
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Neutropenia ORPHA:175
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... ORPHA:466650
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... OMIM:619991
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Hypermagnesemia ORPHA:358
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Anemia, Hypophosphatemia, Splenomegaly ORPHA:667
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia OMIM:613658
22Q11.2 Deletion Syndrome
Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Digeorge Syndrome
Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Anemia, Thrombocytopenia OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Hepatosplenomegaly, Hypocalcemia, Hypomagnesemia OMIM:619503
Charge Syndrome
Hypocalcemia, Lymphopenia OMIM:214800
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia OMIM:243800
Lenz-Majewski Hyperostotic Dwarfism
OMIM:151050
Lenz-Majewski Hyperostotic Dwarfism
ORPHA:2658

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 Ptdss1

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 Ptdss1.

No publications found that use IMPC mice or data for Ptdss1.

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MGI Allele Allele Type Produced
Ptdss1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ptdss1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ptdss1tm80861(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptdss1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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