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Gene: Sox7 MGI:98369

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

Order Alleles

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 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
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... OMIM:600803
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Biliary Atresia, Extrahepatic
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... OMIM:210500
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture ORPHA:171719
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele, Thymus hyperplasia ORPHA:563609
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Cryptorchidism OMIM:615524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Elevated hepatic transaminase, Ach... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis OMIM:605479
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
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
Biliary atresia, Calf muscle hypertrophy, Myositis, Skeletal muscle atrophy, Proximal muscle weak... ORPHA:565899
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Cholelithiasis OMIM:232800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Pigment gallstones, Cholelithiasis OMIM:613470
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Alpha-Thalassemia
Splenomegaly, Hypersplenism, Jaundice, Cholelithiasis ORPHA:846
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1166
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, C... ORPHA:79095
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:284180
Glycogen Storage Disease Xii
Muscle fiber splitting, Elevated circulating alanine aminotransferase concentration, Increased va... OMIM:611881
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Omphalocele, Flexion contracture, Periportal fibrosis OMIM:263210
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele, Cryptorchidism ORPHA:95706
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Congenital diaphragmatic hernia, Abnormality of mesentery morphol... ORPHA:2075
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Mirizzi Syndrome
Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Cholelithiasis, Abnormality of t... ORPHA:521219
Tonne-Kalscheuer Syndrome
Decreased testicular size, Congenital diaphragmatic hernia, Cryptorchidism OMIM:300978
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis OMIM:266200
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Congenital diap... ORPHA:2470
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:618022
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Macroglossia, Umbilical hernia OMIM:614608
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Beta-Thalassemia
Hepatitis, Splenomegaly, Hepatomegaly, Cholelithiasis ORPHA:848
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1488
Myotonic Dystrophy 1
Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Hyp... ORPHA:30391
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Cryptorchidism ORPHA:412035
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:2063
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Hernia, C... ORPHA:94065
Martinez-Frias Syndrome
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... OMIM:601346
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... ORPHA:209902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hepatitis, Jaundice, Hepatomegaly, Cholelithiasis OMIM:194380
Pentalogy Of Cantrell
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia, Omphalocele ORPHA:1335
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:250999
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, Hepatocellular carcinoma, Hepatosp... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... ORPHA:79302
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Abnormality of the liver ORPHA:1834
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Triosephosphate Isomerase Deficiency
Jaundice, Cholecystitis, Myopathy, Skeletal muscle atrophy, Cholelithiasis, Prolonged neonatal ja... OMIM:615512
Jansen-De Vries Syndrome
Central diaphragmatic hernia OMIM:617450
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Umbili... ORPHA:2311
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... OMIM:615710
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2847
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cirrhosis, Generalized amyotrophy, Hepatitis, Jaundice, Pancreatitis, Cholangio... ORPHA:171
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Decreased response to growth hormone stimulation test, Jo... ORPHA:363528
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Flexion contracture, Distal lower limb amyotrophy, Decreased testicular size, Facial hypotonia, C... OMIM:300534
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Emanuel Syndrome
Torticollis, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Joint contracture OMIM:609029
Vacterl/Vater Association
Abnormality of the pancreas, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Cry... ORPHA:887
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:219100
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele, Cryptorchidism ORPHA:261344
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormality of the ab... ORPHA:2409
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration OMIM:222448
Sialuria
Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly ORPHA:3166
Ppoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97278
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventral hernia OMIM:313850
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidism OMIM:612530
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Emanuel Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Multiple joint contractures, Cryptorchidism ORPHA:96170
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Adrenal gland agenesis OMIM:611812
Cimdag Syndrome
Lipodystrophy, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Meckel Syndrome, Type 6
Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Hepatic cysts, Cystic liver disease OMIM:612284
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Supernumerary nipple, Umbilical hernia ORPHA:1001
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Elevated hepatic transaminase, Cholelithiasis OMIM:614886
Zaki Syndrome
Congenital diaphragmatic hernia OMIM:619648
Czeizel-Losonci Syndrome
Aplasia of the left hemidiaphragm, Hypoplastic nipples, Posterolateral diaphragmatic hernia ORPHA:2437
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... ORPHA:1414
Multiple Pterygium Syndrome, Escobar Variant
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Diaphragmatic eventra... OMIM:265000
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Umbilical hernia OMIM:618651
North American Indian Childhood Cirrhosis
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis OMIM:604901
Grfoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97261
Distal Trisomy 5Q
Hernia, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Sickle Cell Anemia
Abnormality of the spleen, Cholestasis, Pigment gallstones ORPHA:232
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Multilobulated spleen, Congenital diaphragmatic hernia, Inguinal herni... OMIM:601186
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Hernia, Congenital diaphragmatic hernia, Inguinal herni... ORPHA:2092
Sickle Cell Disease
Splenic infarction, Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly OMIM:603903
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Hepatic agen... ORPHA:1692
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Cryptorchidism OMIM:617602
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Enamel hypoplasia, Hepatic fibrosis, Hepatic failure, Sclerosing ch... OMIM:607626
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Enamel hypoplasia, Chronic active hepatitis, Hypoparathyroidism, Cholelithiasis OMIM:240300
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:251071
Arterial Tortuosity Syndrome
Flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia, Hiatus h... OMIM:208050
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Prolonged neonatal jaundice, Cholelithiasis ORPHA:288
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Polysplenia, Cryptorchidism OMIM:614294
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Congenital diaphragmatic hernia, Ingu... OMIM:600001
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Cholelithiasis, Lower limb muscle weakness OMIM:213700
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia OMIM:616364
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia, Ovarian gonadoblastoma OMIM:194080
Hereditary Spherocytosis
Jaundice, Splenomegaly, Hepatomegaly, Cholelithiasis ORPHA:822
8P Inverted Duplication/Deletion Syndrome
Contractures of the large joints, Small hypothenar eminence, Aplasia/Hypoplasia of the gallbladde... ORPHA:96092
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Corneal scarring, Jaundice, Hepatomegaly, Cholelithiasis, Atypical... OMIM:263700
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Distal arthrogryposis, Decreased liver function, Macroglossia, Hepatomega... OMIM:618268
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Craniofrontonasal Syndrome
Unilateral breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Breast hypoplasia,... OMIM:304110
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Hernia, Aplasia/Hypoplasia of the gallbladder, Congenital... ORPHA:2255
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Perlman Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Pancreatic islet-c... OMIM:267000
White-Sutton Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Ventral hernia, Facial hypotonia ORPHA:468678
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Splenomegaly, Portal vein thrombosis, Cholelithiasis ORPHA:3202
Fryns Syndrome
Congenital diaphragmatic hernia, Omphalocele, Cryptorchidism ORPHA:2059
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia ORPHA:512
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Inguinal hernia, Bile duct proliferation... OMIM:267010
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Omphaloce... OMIM:618454
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Congenital diaphragmatic hernia, Elbow flexion contracture, Left ventricular hyp... OMIM:245600
Trisomy 18
Camptodactyly of finger, Hernia, Congenital diaphragmatic hernia, Cryptorchidism, Omphalocele ORPHA:3380
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Hydrocele testis OMIM:614080
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 3rd finger, Cholelithiasis ORPHA:464738
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Polysplenia, Super... ORPHA:373
Hereditary Hemorrhagic Telangiectasia
Hepatic failure, Cirrhosis, Cholecystitis, Portal hypertension, Cholelithiasis ORPHA:774
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Cholelithiasis, Umbilical hernia OMIM:301066
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Inguinal hernia, Accessory spleen, Poste... OMIM:613177
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hypo... OMIM:122470
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Jaundice, Spleni... ORPHA:400
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Enlarged ovaries, Omphalocele, ... ORPHA:2745
Aymé-Gripp Syndrome
Camptodactyly, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Breast hypoplasia ORPHA:1272
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Diets-Jongmans Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia, Cryptorchidism OMIM:618846
7Q11.23 Microduplication Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:96121
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormality of the spleen, Cryptorchidism ORPHA:3097
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... OMIM:208540
Bohring-Opitz Syndrome
Congenital contracture, Bilateral wrist flexion contracture, Facial hypotonia, Annular pancreas, ... ORPHA:97297
Holoprosencephaly
Anterior hypopituitarism, Panhypopituitarism, Congenital diaphragmatic hernia, Cryptorchidism, Om... ORPHA:2162
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Abnormal testis morphology ORPHA:991
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Trisomy 8P
Hernia, Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Annul... ORPHA:264450
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti, Leiomyosarcoma, Macroglossia, Hepatoblastoma, Congenital diaphragma... ORPHA:116
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Abnormality of masticatory muscle, Elevate... ORPHA:273
Wolf-Hirschhorn Syndrome
Hernia, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Cryptorchidism, Abdomina... ORPHA:280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Elbow flexion contracture, Absent nipple OMIM:200980
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Abnormality of the Achilles tendon, Distal amyotrophy, Prolonged neonatal j... ORPHA:909
Caroli Syndrome
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangi... ORPHA:480520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Inguinal hernia, Contracture of the distal interphala... ORPHA:83617
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Congenital diaphragmatic hernia, Abnormal dental enamel morpholog... ORPHA:818
Tetraamelia Syndrome 1
Asplenia, Congenital diaphragmatic hernia, Adrenal gland agenesis OMIM:273395
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Monosomy 9P
Congenital diaphragmatic hernia, Hernia, Cryptorchidism ORPHA:261112
Iniencephaly
Congenital diaphragmatic hernia, Omphalocele, Arthrogryposis multiplex congenita ORPHA:63259
Triploidy
Abnormality of the pancreas, Abnormality of the gallbladder, Macroglossia, Hepatomegaly, Cryptorc... ORPHA:3376
Poland Syndrome
Abnormality of the liver, Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia... ORPHA:2911
Kabuki Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:2322
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ventral hernia, Diastasis recti, Abnormality of the liver ORPHA:2369
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Cryptorchidism OMIM:617641
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Inguinal hernia, Hypoparathyroidism, Cryptorchidism, Chol... ORPHA:567
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Camptodactyly ORPHA:171929
Meckel Syndrome, Type 2
Omphalocele, Bile duct proliferation OMIM:603194
Meacham Syndrome
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Accessory spleen, Aplasia of the ri... OMIM:608978
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Lathosterolosis
Intrahepatic cholestasis, Elevated hepatic transaminase, Bilobate gallbladder, Hepatosplenomegaly OMIM:607330
Fucosidosis
Abnormality of the gallbladder, Lipoatrophy, Decreased muscle mass, Hepatomegaly ORPHA:349
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia OMIM:614437
Focal Dermal Hypoplasia
Enamel hypoplasia, Diastasis recti, Supernumerary nipple, Congenital diaphragmatic hernia, Inguin... OMIM:305600
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia OMIM:154400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Contracture of the proximal interphalangeal joint of the 3rd fin... OMIM:301044
Distal Monosomy 15Q
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1596
C Syndrome
Omphalocele, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculatur... ORPHA:1308
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Hepatomegaly, Cholelithiasis, D... ORPHA:77293
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... ORPHA:100086
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Abnormal testis morphology, Abnormal dental enamel morphology ORPHA:2556
Pseudoaminopterin Syndrome
Inguinal hernia, Asplenia, Posterolateral diaphragmatic hernia, Cryptorchidism ORPHA:221120
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Pancreatic aplas... OMIM:618500
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Simpson-Golabi-Behmel Syndrome, Type 1
Diastasis recti, Polysplenia, Supernumerary nipple, Pancreatic islet-cell hyperplasia, Hepatoblas... OMIM:312870
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Cholelithiasis, Abnormality of the spleen, Splenomegaly ORPHA:2072
Digeorge Syndrome
Hypoplasia of the thymus, Hydrocele testis, Hepatic steatosis, Inguinal hernia, Parathyroid hypop... OMIM:188400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Omphalocele ORPHA:3186
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Hepatomegaly, Cryptorchidism OMIM:620025
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Cardiac-Urogenital Syndrome
Hepatopulmonary fusion, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Accessory spl... OMIM:618280
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Hardikar Syndrome
Hepatic fibrosis, Cirrhosis, Hepatic failure, Prolonged neonatal jaundice, Hypersplenism, Jaundic... OMIM:301068
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Congenital diaphragmatic hernia OMIM:157800
Tetrasomy 9P
Absent gallbladder, Biliary atresia, Jaundice, Myositis, Cryptorchidism, Amelogenesis imperfecta,... ORPHA:3310
Zttk Syndrome
Absent gallbladder, Flexion contracture OMIM:617140
Coffin-Siris Syndrome 1
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia, Cryptorchidism OMIM:135900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Williams Syndrome
Macroglossia, Inguinal hernia, Polycystic ovaries, Myopathy, Cryptorchidism, Cholelithiasis, Umbi... ORPHA:904
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Inguinal hernia, Unilateral cryptorchidism... OMIM:613406
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Hypoplastic nipples, Cryptorchidism ORPHA:199
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polycystic ovaries, Biliary t... ORPHA:2869
Fryns Syndrome
Joint contracture of the hand, Polysplenia, Camptodactyly, Ectopic pancreatic tissue, Cryptorchid... OMIM:229850
D-Bifunctional Protein Deficiency
Decreased muscle mass, Elevated hepatic transaminase, Hepatic steatosis, Bile duct proliferation,... OMIM:261515
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Cholangiocarcinoma, Pituitary adenoma, Hepatoblastoma, Biliary tract o... ORPHA:733
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Bile duct proliferation, Elevated hepatic transaminase, Macrovesicular ... OMIM:618329
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Peters-Plus Syndrome
Diastasis recti, Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism, Umbilical hernia OMIM:261540
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Polysplenia, Elevated hepatic transaminase, Left ventricular hypertrophy, Port... OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... OMIM:208500
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Chilton-Okur-Chung Neurodevelopmental Syndrome
Anterior pituitary hypoplasia, Limb hypertonia, Aplasia of the right hemidiaphragm, Cryptorchidism OMIM:619841
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Micro... OMIM:203700
Pallister-Killian Syndrome
Enamel hypoplasia, Flexion contracture, Supernumerary nipple, Macroglossia, Congenital diaphragma... OMIM:601803
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Bile duct prolifera... OMIM:613658
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... OMIM:619525
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Hepatic failure, Biliary hyperplasia, Jaundice, Abnormal hepatic echogenic... OMIM:619991
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus, O... ORPHA:436252
Meckel Syndrome, Type 1
Camptodactyly of finger, Asplenia, Malformation of the hepatic ductal plate, Bile duct proliferat... OMIM:249000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,... OMIM:619534
Hydrolethalus Syndrome 1
Omphalocele, Adrenal gland dysgenesis, Accessory spleen, Agenesis of the diaphragm OMIM:236680
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland 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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