Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SRY (sex determining region Y)-box 7
Synonyms:
N/A

IMPC Data Collections

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

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.

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 Sox7 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 Sox7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm OMIM:601163
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Cryptorchidism OMIM:615524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:36
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Biliary atresia, Myositis, Calf... ORPHA:565899
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1166
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Jaundice, Increased muscle glycogen content, Chol... OMIM:232800
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:95706
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries ORPHA:284180
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia, Omphalocele OMIM:263210
Tonne-Kalscheuer Syndrome
Decreased testicular size, Congenital diaphragmatic hernia, Cryptorchidism OMIM:300978
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, C... ORPHA:2075
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde... ORPHA:521219
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Myopathy, Splenome... OMIM:611881
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Matthew-Wood Syndrome
Annular pancreas, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal spleen morphology, Ap... ORPHA:2470
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Coffin-Siris Syndrome 3
Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia OMIM:614608
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1488
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Facial diplegia OMIM:160900
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:412035
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:2063
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hernia, Congenital diaphragmatic hernia, C... ORPHA:94065
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Pentalogy Of Cantrell
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia, Omphalocele ORPHA:1335
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:250999
Jansen-De Vries Syndrome
Central diaphragmatic hernia OMIM:617450
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... ORPHA:231222
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the liver, Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Triosephosphate Isomerase Deficiency
Cholelithiasis, Skeletal muscle atrophy, Cholecystitis, Myopathy, Splenomegaly, Prolonged neonata... OMIM:615512
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic hernia, Cryp... ORPHA:2311
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2847
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... OMIM:615710
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Decreased response to growth hormone stimulation test, Congenital ... ORPHA:363528
Emanuel Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Joint contracture, Torticollis OMIM:609029
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Distal lower limb amyotrophy, Cryptorchidism, Facial h... OMIM:300534
Vacterl/Vater Association
Abnormality of the gallbladder, Congenital diaphragmatic hernia, Cryptorchidism, Omphalocele, Abn... ORPHA:887
Trisomy 1Q
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly of finger ORPHA:261344
Lowry-Maclean Syndrome
Inguinal hernia, Abnormality of the abdominal organs, Congenital diaphragmatic hernia, Bilateral ... ORPHA:2409
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:3166
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration OMIM:222448
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Emanuel Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multiple joint contractures ORPHA:96170
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis OMIM:619273
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Thoracoabdominal Syndrome
Ventral hernia, Congenital diaphragmatic hernia, Omphalocele OMIM:313850
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Supernumerary nipple OMIM:612530
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Supernumerary nipple ORPHA:1001
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... ORPHA:97278
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy... ORPHA:77259
Zaki Syndrome
Congenital diaphragmatic hernia OMIM:619648
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture OMIM:615919
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:614886
Czeizel-Losonci Syndrome
Hypoplastic nipples, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2437
Halperin-Birk Syndrome
Flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:618651
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:611812
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Congenital diaphragmatic hernia, Knee flexion contracture, Multiple joint contr... OMIM:265000
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Distal Duplication 5Q
Hernia, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:613309
Focal Dermal Hypoplasia
Camptodactyly of finger, Acute hepatic failure, Umbilical hernia, Abnormal dental enamel morpholo... ORPHA:2092
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Cryptorchidism OMIM:617602
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Hepatic agen... ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:219100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... ORPHA:97261
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Umbilical hernia, Absent gallbladder, Congenital diaphragmatic hernia, Ing... OMIM:600001
Microphthalmia, Syndromic 9
Multilobulated spleen, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Hypoplas... OMIM:601186
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis, Hypoparathyroidism, Asplenia OMIM:240300
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:251071
Arterial Tortuosity Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contra... OMIM:208050
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis OMIM:620646
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism OMIM:614294
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Exocrine pancreatic insuffi... ORPHA:2255
Denys-Drash Syndrome
Ovarian gonadoblastoma, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Cholelithiasis, Lower limb muscle weakness OMIM:213700
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Small hypothenar eminence, Contractures of the large joint... ORPHA:96092
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
White-Sutton Syndrome
Facial hypotonia, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:468678
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly ORPHA:822
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Distal... OMIM:618268
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptor... OMIM:618454
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:2059
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Hypoplasia of the abdominal wall musculature, Congenital diaph... OMIM:267000
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Cholelithiasis, Atypical scarring of skin, Corneal scarring, Splen... OMIM:263700
Metachromatic Leukodystrophy
Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology ORPHA:512
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Left ventricular hypertrophy, Inguinal hernia, Congenital diaphragmati... OMIM:245600
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Inguinal hernia, Bile du... OMIM:267010
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Craniofrontonasal Syndrome
Umbilical hernia, Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Unilateral ... OMIM:304110
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Omphalocele ORPHA:3380
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Contracture of the proximal interphalangeal joint of the 3rd finger, Inguinal hernia ORPHA:464738
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Congenital diaphragmatic hernia OMIM:614080
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice ORPHA:232
Simpson-Golabi-Behmel Syndrome
Polysplenia, Supernumerary nipple, Camptodactyly of finger, Umbilical hernia, Congenital diaphrag... ORPHA:373
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Diets-Jongmans Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia OMIM:618846
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Umbilical hernia, Posterolateral diaphragmatic h... OMIM:613177
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Umbilical hernia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly OMIM:301066
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... OMIM:607330
Opitz Gbbb Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Enlarged ovar... ORPHA:2745
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hiat... OMIM:122470
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Meacham Syndrome
Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:3097
Aymé-Gripp Syndrome
Breast hypoplasia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly ORPHA:1272
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Bohring-Opitz Syndrome
Cholelithiasis, Congenital contracture, Annular pancreas, Facial hypotonia, Bilateral wrist flexi... ORPHA:97297
7Q11.23 Microduplication Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:96121
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism, O... ORPHA:2162
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Crypto... ORPHA:280
Pagod Syndrome
Abnormality of the spleen, Congenital diaphragmatic hernia, Omphalocele, Abnormal testis morphology ORPHA:991
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency, Diastasis rect... ORPHA:116
Trisomy 8P
Annular pancreas, Multiple joint contractures, Cryptorchidism, Hernia, Aplasia/Hypoplasia of the ... ORPHA:264450
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Cholelithiasis, Distal amyotrophy, Skeletal muscle atrophy, Ele... ORPHA:273
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Absent nipple, Congenital diaphragmatic hernia OMIM:200980
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Distal amyotrophy, Cholelithiasis, Abnormality of the Achilles tendon, Prol... ORPHA:909
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Abnormality of the gallbladder, Congenital diaphragmatic herni... ORPHA:818
Monosomy 9P
Hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261112
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interphalangeal joint of the fin... ORPHA:83617
Loeys-Dietz Syndrome 6
Camptodactyly, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:619656
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Omphalocele ORPHA:63259
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia, Congenital diaphragmatic hernia OMIM:273395
Poland Syndrome
Abnormality of the liver, Absence of subcutaneous fat, Cryptorchidism, Congenital diaphragmatic h... ORPHA:2911
Kabuki Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:2322
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Triploidy
Abnormality of the gallbladder, Cryptorchidism, Omphalocele, Hepatomegaly, Macroglossia, Abnormal... ORPHA:3376
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Cryptorchidism OMIM:617641
Limb Body Wall Complex
Ventral hernia, Abnormality of the liver, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Splenic ... ORPHA:355
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Lipoatrophy, Decreased muscle mass ORPHA:349
22Q11.2 Deletion Syndrome
Cholelithiasis, Umbilical hernia, Abnormal dental enamel morphology, Cryptorchidism, Splenomegaly... ORPHA:567
Distal Deletion 15Q
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1596
Meckel Syndrome, Type 2
Bile duct proliferation, Omphalocele OMIM:603194
Trisomy 10P
Camptodactyly, Absent gallbladder, Decreased muscle mass ORPHA:171929
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Cardiac-Urogenital Syndrome
Accessory spleen, Congenital diaphragmatic hernia, Cryptorchidism, Hepatopulmonary fusion, Unilat... OMIM:618280
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Diaphrag... OMIM:608978
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia OMIM:154400
Focal Dermal Hypoplasia
Supernumerary nipple, Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Cryptor... OMIM:305600
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal testis morphology ORPHA:2556
Cutis Laxa, Autosomal Recessive, Type Ib
Scarring, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm OMIM:614437
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Congenital diaphragmatic herni... ORPHA:1308
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Camptodactyly, Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital di... OMIM:301044
Pseudoaminopterin Syndrome
Asplenia, Inguinal hernia, Posterolateral diaphragmatic hernia, Cryptorchidism ORPHA:221120
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ... ORPHA:77293
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... OMIM:618500
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Supernumerary nipple, Umbilical hernia, Diastasis recti, Congenital diaphragmatic he... OMIM:312870
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Hepatic steatosis, Ovarian cyst, Spleno... OMIM:188400
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Extrahep... ORPHA:100086
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly ORPHA:2072
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Omphalocele ORPHA:3186
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Cryptorchidism, Aplasia of the left hemidiaphragm, Diaphragmatic eventration OMIM:620025
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Tetrasomy 9P
Umbilical hernia, Abnormal dental enamel morphology, Absent gallbladder, Cryptorchidism, Biliary ... ORPHA:3310
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Congenital diaphragmatic hernia OMIM:157800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Coffin-Siris Syndrome 1
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia OMIM:135900
Zttk Syndrome
Flexion contracture, Absent gallbladder OMIM:617140
Williams Syndrome
Cholelithiasis, Umbilical hernia, Abnormal dental enamel morphology, Cryptorchidism, Myopathy, Po... ORPHA:904
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Inguinal hernia... OMIM:613406
Cornelia De Lange Syndrome
Hypoplastic nipples, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:199
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... ORPHA:774
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Fryns Syndrome
Joint contracture of the hand, Polysplenia, Cryptorchidism, Omphalocele, Camptodactyly, Ectopic p... OMIM:229850
Alkaptonuria
Tendon rupture, Black pigment gallstones, Thickened Achilles tendon ORPHA:56
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... ORPHA:731
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Cholestasis, Hepa... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... OMIM:618329
Familial Adenomatous Polyposis
Abnormal cementum morphology, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract... ORPHA:733
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... OMIM:613610
Peters-Plus Syndrome
Umbilical hernia, Diastasis recti, Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder OMIM:261540
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Supernumerary nipple, Umbilical hernia, Congenital diaphragmati... OMIM:601803
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... OMIM:208500
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Chilton-Okur-Chung Neurodevelopmental Syndrome
Anterior pituitary hypoplasia, Limb hypertonia, Aplasia of the right hemidiaphragm, Cryptorchidism OMIM:619841
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... OMIM:613658
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated... OMIM:619525
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Hypoplasia of the thymus, Omphalocele, Abnormal ductus choledochus... ORPHA:436252
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Camptodactyly of finger, Cryptorchidi... OMIM:249000
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Agenesis of the diaphragm, Omphalocele OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Elevated circulating aspartate aminotransferase... OMIM:619534
Neurofibroma
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183

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 Sox7

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 Sox7.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The blood vasculature instructs lymphatic patterning in a SOX7-dependent manner. The EMBO journal (January 2023) Sox7tm1c(EUCOMM)Hmgu PMC9975944
Correction: SoxF factors induce Notch1 expression via direct transcriptional regulation during early arterial development. Development doi: 10.1242/dev.146241. Development (Cambridge, England) (October 2017) Sox7tm1(KOMP)Vlcg PMC5675453
SOX7 expression is critically required in FLK1-expressing cells for vasculogenesis and angiogenesis during mouse embryonic development. Mechanisms of development (May 2017) Sox7tm1a(EUCOMM)Hmgu PMC5496588
Dominant-negative Sox18 function inhibits dermal papilla maturation and differentiation in all murine hair types. Development (Cambridge, England) (May 2017) Sox7tm1(KOMP)Vlcg 28512199
Interplay between SOX7 and RUNX1 regulates hemogenic endothelial fate in the yolk sac. Development (Cambridge, England) (October 2016) Sox7tm1a(EUCOMM)Hmgu 27802172

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MGI Allele Allele Type Produced
Sox7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sox7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sox7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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