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Gene: 4930524B15Rik MGI:1914842

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Gene Summary

Name:
RIKEN cDNA 4930524B15 gene
Synonyms:
N/A

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gallbladder morphology 4930524B15Rikem1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity 4930524B15Rikem1(IMPC)Mbp HOM Early adult 4.40×10-05
abnormal bone structure 4930524B15Rikem1(IMPC)Mbp HOM   Early adult 5.61×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

31 Images

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Human diseases caused by 4930524B15Rik 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 4930524B15Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
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
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
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
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... OMIM:211600
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
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
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
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Reduced bone mineral density, Cholelithiasis ORPHA:848
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ... ORPHA:79301
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Beta-Thalassemia Intermedia
Osteopenia, Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, O... ORPHA:231222
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Cholestatic liver disease, Cholelith... ORPHA:79095
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
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
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
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Abnormal cortical bone morphology, Hepatic failure OMIM:614886
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinom... ORPHA:171
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Osteoporosis, Cholestasis ORPHA:232
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Metachromatic Leukodystrophy
Ataxia, Abnormal gallbladder morphology, Hemobilia, Tip-toe gait, Gait disturbance, Neoplasm of t... ORPHA:512
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Reduced bon... ORPHA:1414
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Cimdag Syndrome
Microvesicular hepatic steatosis, Ataxia, Cholelithiasis, Hepatomegaly OMIM:619273
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Cerebrotendinous Xanthomatosis
Cholelithiasis, Difficulty walking, Osteoporosis, Ataxia OMIM:213700
Hereditary Spherocytosis
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Cholelithiasis ORPHA:822
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Unsteady gait, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis, Shuffling gait OMIM:300534
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Craniosynostosis ORPHA:96097
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice ORPHA:288
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Porphyria, Congenital Erythropoietic
Osteopenia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis OMIM:263700
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97261
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis OMIM:240300
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Ataxia, Hypersplenism, Splenomegaly, Osteoporosis, Neoplasm of the live... ORPHA:77293
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cholelithiasis, Difficulty walking ORPHA:464738
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... OMIM:618268
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure ORPHA:774
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Rickets, Cholestasis... ORPHA:79303
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Cerebrotendinous Xanthomatosis
Osteopenia, Ataxia, Osteoporosis, Gait disturbance, Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly OMIM:301066
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Bohring-Opitz Syndrome
Inability to walk, Annular pancreas, Cholelithiasis ORPHA:97297
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Hepa... OMIM:607330
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplenomegaly, Hepat... ORPHA:2072
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Coronal craniosynostosis, Panc... ORPHA:83617
Joubert Syndrome 6
Bile duct proliferation, Ataxia, Hepatic fibrosis OMIM:610688
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Trisomy 8P
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Inability t... ORPHA:273
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Cholecystitis, Difficulty walking, Neoplasm of the gallbladder ORPHA:309271
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cryptorchidism, Splenomegaly, Multiple suture craniosynostosis, Hypoplasia of... ORPHA:567
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Decreased calvarial ossification OMIM:617925
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... ORPHA:2255
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Osteoporosis, Biliary cirrhosis, Hepatitis, Abnormal intrahepatic ... ORPHA:186
Triploidy
Hepatomegaly, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallbladder, Decrea... ORPHA:3376
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati... OMIM:618500
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... ORPHA:100086
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Williams Syndrome
Osteopenia, Increased bone mineral density, Ataxia, Cryptorchidism, Osteoporosis, Dysmetria, Poly... ORPHA:904
Steinfeld Syndrome
Absent gallbladder OMIM:184705
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Zttk Syndrome
Absent gallbladder, Craniosynostosis OMIM:617140
Trisomy 10P
Absent gallbladder ORPHA:171929
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Microvesicular hepati... OMIM:203700
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
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
D-Bifunctional Protein Deficiency
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cholestasis, Bile duct pro... OMIM:261515
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Early ossification of ... OMIM:208500
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... ORPHA:733
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Tetrasomy 9P
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism ORPHA:3310
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Elevated hepatic transaminase, Portal hypertension, Rickets, Cholestasis, Reduced bon... OMIM:613658
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
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Sagittal craniosynostosis ORPHA:500150
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Peters-Plus Syndrome
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder, Craniosynostosis OMIM:261540
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Craniosynostosis, Splenomegaly, Biliary... OMIM:613610
Vacterl/Vater Association
Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:887
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... OMIM:619991
Wolf-Hirschhorn Syndrome
Ataxia, Cryptorchidism, Abnormality of the gallbladder, Osteoporosis, Abdominal situs inversus ORPHA:280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal h... OMIM:619534
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... OMIM:249000
Combined Immunodeficiency-Enteropathy Spectrum
Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess ORPHA:436252
Neurofibroma
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormality of the gallbladder ORPHA:818

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 4930524B15Rik

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 4930524B15Rik.

No publications found that use IMPC mice or data for 4930524B15Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
4930524B15Riktm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
4930524B15Riktm242(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
4930524B15Riktm242(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
4930524B15Rikem1(IMPC)Mbp Exon Deletion Mice, Tissue

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