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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
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
8p23.1 deletion syndrome
Cryptorchidism, Congenital diaphragmatic hernia DECIPHER:39
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:261102
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Testicular atrophy OMIM:601163
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Microphthalmia, Syndromic 12
Cryptorchidism, Congenital diaphragmatic hernia OMIM:615524
Acrocallosal Syndrome
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... ORPHA:565899
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:1166
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Jaundice, Chol... OMIM:232800
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Rhabdomyolysis, Cholestatic liver disease, C... ORPHA:79095
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Non-Syndromic Posterior Hypospadias
Omphalocele, Cryptorchidism, Congenital diaphragmatic hernia ORPHA:95706
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries ORPHA:284180
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... ORPHA:521219
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Tonne-Kalscheuer Syndrome
Cryptorchidism, Decreased testicular size, Congenital diaphragmatic hernia OMIM:300978
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphra... ORPHA:2075
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Coffin-Siris Syndrome 3
Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia OMIM:614608
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Myotonic Dystrophy 1
Facial diplegia, Cholelithiasis, Testicular atrophy OMIM:160900
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... 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
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
15Q24 Microdeletion Syndrome
Cryptorchidism, Hernia, Decreased response to growth hormone stimulation test, Congenital diaphra... ORPHA:94065
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Polysplenia, Congenital diaphragmatic hernia ORPHA:1335
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:250999
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Jansen-De Vries Syndrome
Central diaphragmatic hernia OMIM:617450
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the spleen, Abnormality of the liver, Congenital diaphragmatic hernia ORPHA:1834
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Splenomegaly, Jaundice, Myopathy, Cholecystitis, Prolonged neonatal jaun... OMIM:615512
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Umbili... ORPHA:2311
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... ORPHA:363528
Emanuel Syndrome
Torticollis, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Joint contracture OMIM:609029
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:219100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Flexion contracture, Lower limb h... OMIM:300534
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pancreas, Abnorm... ORPHA:887
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Abnormality of the abdominal organs, Inguinal hernia, Congenital diaphr... ORPHA:2409
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Trisomy 1Q
Omphalocele, Cryptorchidism, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly OMIM:619273
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:1647
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Thoracoabdominal Syndrome
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Emanuel Syndrome
Cryptorchidism, Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia ORPHA:96170
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Congenital diaphragmatic hernia OMIM:612530
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Zaki Syndrome
Congenital diaphragmatic hernia OMIM:619648
2Q37 Microdeletion Syndrome
Umbilical hernia, Supernumerary nipple, Congenital diaphragmatic hernia ORPHA:1001
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Hypoplastic nipples ORPHA:2437
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:611812
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... ORPHA:1414
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure OMIM:614886
Halperin-Birk Syndrome
Umbilical hernia, Inguinal hernia, Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial... OMIM:265000
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hernia ORPHA:96097
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97261
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Inguinal hernia, Abnormal dental enamel morphology, Congenita... ORPHA:2092
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl... ORPHA:1692
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Congenital diaphragmatic hernia, Biliary atresia, Aplasia of... OMIM:600001
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Cholelithiasis, Enamel hypoplasia OMIM:240300
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Diaphrag... OMIM:601186
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Umbilical h... OMIM:208050
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice ORPHA:288
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
8P23.1 Microdeletion Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:251071
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the g... ORPHA:2255
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Inguinal hernia, Polysplenia, Congenital diaphragmatic hernia OMIM:614294
Cerebrotendinous Xanthomatosis
Cholelithiasis, Tendon xanthomatosis, Lower limb muscle weakness OMIM:213700
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Ovarian gonadoblastoma, Congenital diaphragmatic hernia OMIM:194080
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis ORPHA:822
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
8P Inverted Duplication/Deletion Syndrome
Contractures of the large joints, Small hypothenar eminence, Aplasia/Hypoplasia of the gallbladde... ORPHA:96092
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Macroglossia, Distal arthrogryposis, Recurrent pancreatitis, Decrease... OMIM:618268
Porphyria, Congenital Erythropoietic
Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of skin, Cholelithiasis... OMIM:263700
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidi... OMIM:618454
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder ORPHA:512
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hyperplasia, Congenital diaph... OMIM:267000
Fryns Syndrome
Omphalocele, Cryptorchidism, Congenital diaphragmatic hernia ORPHA:2059
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatospl... OMIM:267010
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia, Unilateral breast hypoplasia, ... OMIM:304110
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Inguinal hernia, Elbow flexion contracture, Congenital diaphragmati... OMIM:245600
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Inguinal hernia, Contracture of the proximal interphalangeal joint of the 3rd finger ORPHA:464738
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hernia ORPHA:3380
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Congenital diaphragmatic hernia OMIM:614080
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure ORPHA:774
Simpson-Golabi-Behmel Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic her... ORPHA:373
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholelithiasis OMIM:301066
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Morgagni diaphragmatic he... OMIM:613177
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Cornelia De Lange Syndrome 1
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Cryptorchidism, Elbow flexion co... OMIM:122470
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Enlarged ovaries, Congenital diaphragmatic hernia, Cryptorchidism, ... ORPHA:2745
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism OMIM:618846
Aymé-Gripp Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly, Breast hypoplasia ORPHA:1272
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Bohring-Opitz Syndrome
Facial hypotonia, Bilateral wrist flexion contracture, Congenital contracture, Lower limb hyperto... ORPHA:97297
Meacham Syndrome
Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:3097
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
7Q11.23 Microduplication Syndrome
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:96121
Holoprosencephaly
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the spleen, Anterior... ORPHA:2162
Pagod Syndrome
Omphalocele, Abnormality of the spleen, Abnormal testis morphology, Congenital diaphragmatic hernia ORPHA:991
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphra... ORPHA:116
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hernia, Annul... ORPHA:264450
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the gallbladder, Abdominal situs ... ORPHA:280
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Decreased response to growth hormone stim... ORPHA:273
Acrorenal-Mandibular Syndrome
Absent nipple, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Distal amyotrophy, Prolonged neonatal jaundice, Cholelithiasis, Abnormality... ORPHA:909
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Biliary hyperplasia, Contracture of the distal interphalangeal joi... ORPHA:83617
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:273395
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormality of the gallbladder, Abnormal dental enamel morphology, Congenital dia... ORPHA:818
Monosomy 9P
Cryptorchidism, Hernia, Congenital diaphragmatic hernia ORPHA:261112
Iniencephaly
Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Poland Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the pectoralis major muscle, Absence ... ORPHA:2911
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Kabuki Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:2322
Triploidy
Omphalocele, Hepatomegaly, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallbl... ORPHA:3376
Limb Body Wall Complex
Ventral hernia, Abnormality of the liver, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Congenital diaphragmatic hernia OMIM:617641
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Splenomeg... ORPHA:567
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Camptodactyly ORPHA:171929
Meckel Syndrome, Type 2
Omphalocele, Bile duct proliferation OMIM:603194
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Lipoatrophy ORPHA:349
Lathosterolosis
Elevated hepatic transaminase, Intrahepatic cholestasis, Bilobate gallbladder, Hepatosplenomegaly OMIM:607330
Meacham Syndrome
Accessory spleen, Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Aplasia of the ri... OMIM:608978
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia OMIM:154400
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia OMIM:614437
Distal Deletion 15Q
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:1596
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Su... OMIM:305600
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... ORPHA:77293
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
C Syndrome
Omphalocele, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital dia... ORPHA:1308
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Asplenia ORPHA:221120
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati... OMIM:618500
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Hep... OMIM:618280
Microphthalmia With Linear Skin Defects Syndrome
Abnormal testis morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia ORPHA:2556
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... ORPHA:100086
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia... OMIM:312870
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis ORPHA:2072
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Cholelithiasis, Splenomegaly, Parathyroid ... OMIM:188400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder ORPHA:3186
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism, Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Hepatomegaly OMIM:620025
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Tetrasomy 9P
Absent gallbladder, Myositis, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliar... ORPHA:3310
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Congenital diaphragmatic hernia OMIM:157800
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Hepatoblastoma, Goiter, Pituitary adenoma, Neoplas... ORPHA:733
Zttk Syndrome
Absent gallbladder, Flexion contracture OMIM:617140
Coffin-Siris Syndrome 1
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism OMIM:135900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Williams Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Polycystic ovaries, Macroglos... ORPHA:904
Witteveen-Kolk Syndrome
Inguinal hernia, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test... OMIM:613406
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Fryns Syndrome
Omphalocele, Ectopic pancreatic tissue, Cryptorchidism, Aplasia of the left hemidiaphragm, Polysp... OMIM:229850
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Cornelia De Lange Syndrome
Cryptorchidism, Hypoplastic nipples, Congenital diaphragmatic hernia ORPHA:199
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Splenomegaly, Cholestasis, Bi... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Peters-Plus Syndrome
Bilobate gallbladder, Diastasis recti, Cryptorchidism, Biliary tract abnormality, Umbilical hernia OMIM:261540
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Splenomegaly, Biliary ... OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... 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
Cryptorchidism, Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia, Limb hypertonia OMIM:619841
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidi... OMIM:601803
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Portal hypertension, Cholestasis, Bile duct proli... OMIM:613658
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Biliary hyperplasia, Intrahepatic c... OMIM:619991
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphology, Periton... ORPHA:436252
Meckel Syndrome, Type 1
Omphalocele, Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate,... OMIM:249000
Hydrolethalus Syndrome 1
Omphalocele, Adrenal gland dysgenesis, Agenesis of the diaphragm, Accessory spleen OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Por... 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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