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Gene: Spen MGI:1891706

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
spen family transcription repressor
Synonyms:
Mint

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
1P36 Deletion Syndrome
Abnormal heart valve morphology, Abnormality of the spleen, Patent ductus arteriosus, Dilated car... ORPHA:1606
Radio-Tartaglia Syndrome
Dry skin, Ventricular septal defect, Striae distensae OMIM:619312

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Dermal translucency OMIM:619115
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency OMIM:619120
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Excessive wrinkled skin, Cutis laxa, Dermal translucency OMIM:614438
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
De Barsy Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cutis laxa, Excessive wrinkl... ORPHA:2962
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Dermal translucency OMIM:137940
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Dermal translucency OMIM:615349
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:617506
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Redundant skin, Dermal translucency OMIM:225410
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Dermal translucency OMIM:612199
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Pulmonic stenosis, Dermal translucency OMIM:618343
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Barber-Say Syndrome
Absent nipple, Redundant skin, Cryptorchidism, Hypoplastic nipples, Premature skin wrinkling, Dry... OMIM:209885
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse, Dermal translucency ORPHA:536467
Fontaine Progeroid Syndrome
Atrial septal defect, Absent nipple, Bicuspid aortic valve, Redundant skin, Cryptorchidism, Paten... OMIM:612289
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Autosomal Dominant Cutis Laxa
Redundant neck skin, Redundant skin, Dilatation of the ventricular cavity, Cutis laxa, Premature ... ORPHA:90348
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... OMIM:609192
Restrictive Dermopathy
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Transpos... ORPHA:1662
Fibromuscular Dysplasia, Multifocal
Striae distensae, Dermal translucency OMIM:619329
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... OMIM:610168
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital malformation of... ORPHA:3455
Cutis Laxa, Autosomal Recessive, Type Ib
Cutis laxa, Dermal translucency OMIM:614437
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, ... OMIM:613795
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Mitral valve prolapse, Ecchymosis, Anemia, Dermal translucency OMIM:130050
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Redundant skin, Cryptorchidism, Mitral valve prolapse, Excessive... ORPHA:286
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Feingold Syndrome
Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas ORPHA:1305
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Cryptorchidism, Patent ductus arteriosus, Reticulocytopenia, Abnorma... OMIM:227646
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... ORPHA:699
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepa... OMIM:232220
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri... ORPHA:449432
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, A... OMIM:265380
Beckwith-Wiedemann Syndrome
Hepatomegaly, Redundant skin, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morph... ORPHA:116
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
1P36 Deletion Syndrome
Abnormal heart valve morphology, Abnormality of the spleen, Patent ductus arteriosus, Dilated car... ORPHA:1606
Radio-Tartaglia Syndrome
Dry skin, Ventricular septal defect, Striae distensae OMIM:619312

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 Spen

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 Spen.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Spentm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spentm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Spentm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Spentm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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