Not currently registered for phenotyping at IMPC

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

Gene Summary

spen family transcription repressor

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Atrial septal defect OMIM:619115
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency OMIM:619120
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Ventricular s... OMIM:619991
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Dermal translucency, Cryptorchidism, Cutis laxa OMIM:614438
De Barsy Syndrome
Cutis laxa, Excessive wrinkled skin, Ventricular septal defect, Patent ductus arteriosus, Dermal ... ORPHA:2962
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Hydrocele testis OMIM:137940
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Pat... OMIM:617506
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Barber-Say Syndrome
Absent nipple, Redundant skin, Dry skin, Hypoplastic nipples, Premature skin wrinkling, Dermal tr... OMIM:209885
Fontaine Progeroid Syndrome
Absent nipple, Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Redunda... OMIM:612289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, Mitral valve prolapse ORPHA:536467
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... OMIM:208540
Autosomal Dominant Cutis Laxa
Cutis laxa, Redundant skin, Premature skin wrinkling, Dermal translucency, Dilatation of the vent... ORPHA:90348
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve, Pat... OMIM:609192
Restrictive Dermopathy
Atrial septal defect, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductu... ORPHA:1662
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Striae distensae OMIM:619329
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Dysplastic pulmonary valve, Pulmonic steno... ORPHA:3455
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve, Pat... OMIM:610168
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Hepatomegaly, Lymphopenia, Pallor, Hepatosplenomegaly, Eosinophilia, Abnor... ORPHA:331206
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mit... OMIM:613795
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Mitral valve prolapse, Ecchymosis, Dermal translucency, Anemia OMIM:130050
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Vascular Ehlers-Danlos Syndrome
Excessive wrinkled skin, Redundant skin, Mitral valve prolapse, Dermal translucency, Abnormal hea... ORPHA:286
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification OMIM:167800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Atrial septal defect, Decreased response to gr... OMIM:618223
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Normocytic anemia, Neut... OMIM:617941
Matthew-Wood Syndrome
Annular pancreas, Abnormal spleen morphology, Cryptorchidism, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Anemic pallor, Thrombocytopenia, Patent ductus art... OMIM:227646
Feingold Syndrome
Annular pancreas, Patent ductus arteriosus, Abnormality of the spleen ORPHA:1305
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... ORPHA:699
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Elevated... OMIM:232220
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Abnormal salivary gland morphology, Ret... ORPHA:449432
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Elevated hepatic ... ORPHA:48818
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly 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
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplast... OMIM:265380
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
1P36 Deletion Syndrome
Annular pancreas, Abnormal cardiac septum morphology, Abnormality of the spleen, Tetralogy of Fal... ORPHA:1606
Radio-Tartaglia Syndrome
Ventricular septal defect, Striae distensae, Dry skin OMIM:619312


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.

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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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