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Gene: Manba MGI:88175

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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:
mannosidase, beta A, lysosomal
Synonyms:
Bmn,  B930014J03Rik,  2410030O07Rik

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 Manba mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Manba by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion OMIM:248510
Beta-Mannosidosis
ORPHA:118

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Spinal cord compression, Colon cancer, Papillary thyroid carcinoma,... ORPHA:319487
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... OMIM:601346
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Renal hypoplasia, Chiari malformation, Pol... OMIM:617784
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Esophageal ... OMIM:300514
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... OMIM:615710
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Colon cancer, Papillary thyroid carcinoma, Goiter ORPHA:97290
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Hydrocep... OMIM:243605
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia ORPHA:100025
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Pheochromocytoma, E... ORPHA:1332
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Dysplastic gangliocytoma of the cerebellum, Thyroiditis, Fu... OMIM:158350
Fryns Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptor... ORPHA:2059
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydrocephalus, Cleft pa... OMIM:257300
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... ORPHA:95715
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Mccune-Albright Syndrome
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... ORPHA:562
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... OMIM:615109
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... OMIM:615108
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... OMIM:146510
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Macrogloss... ORPHA:79320
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyroto... ORPHA:525731
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy... ORPHA:209905
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Microform Holoprosencephaly
Hypoplasia of penis, Maternal diabetes, Panhypopituitarism, Cleft palate, Agenesis of corpus call... ORPHA:280200
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... ORPHA:913
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Steatorrhea, Renal cyst, Proximal tubulopathy, Protein-losing ente... OMIM:602579
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal... OMIM:229850
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Ascher Syndrome
Hypothyroidism, High palate, Goiter ORPHA:1253
Alg1-Cdg
Abnormality of the gastrointestinal tract, Cerebellar atrophy, Renal insufficiency, Nephrotic syn... ORPHA:79327
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Chromoso... OMIM:603467
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal fallopian tube morphology, Intestinal malrotation, Spina bifida, As... ORPHA:99776
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter OMIM:210740
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Cholestasis, Protein-losing enteropathy, Decrease... OMIM:608104
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Cerebellar hypoplasia, Dandy-Walker malformation,... OMIM:217090
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Hypospadias, Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hypo... ORPHA:468631
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Diabetes mellitus, Abnormal er... ORPHA:101330
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Spinal hemangioblastoma, Cerebellar hemangioblastoma,... OMIM:193300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydroceph... ORPHA:163961
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia,... OMIM:304790
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neoplasm, Cleft ... ORPHA:1052
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Jacobsen Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Pyloric stenosis, Cryptorchid... ORPHA:2308
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Blepharochalasis And Double Lip
Goiter OMIM:109900
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Cog8-Cdg
Elevated hepatic transaminase, Cerebellar atrophy, Protein-losing enteropathy, Ventriculomegaly ORPHA:95428
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, High... ORPHA:1655
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly... OMIM:235255
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal... OMIM:265380
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... ORPHA:398063
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism, Cleft palate ORPHA:494
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Nephrogenic diabetes insipidus, Hepatic mela... OMIM:208085
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Feingold Syndrome
Esophageal atresia, Annular pancreas, Abnormality of the spleen, Duodenal atresia ORPHA:1305
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fis... OMIM:619227
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Cerebellar atrophy, Diabetes mellitus, Hyperthyroidism, Abnormalit... ORPHA:254892
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adrenocortical carcinom... ORPHA:79665
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Hydronephrosis,... OMIM:617798
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypospadias, Hypoplasia of the pons, Cryptorchidism, Renal cyst, Fu... OMIM:616975
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Hyd... ORPHA:2166
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... ORPHA:96149
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabet... OMIM:137920
Esophageal Atresia
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Maternal diabetes, Pylori... ORPHA:1199
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Pyloric stenosis, Cryptorc... ORPHA:464306
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u... ORPHA:653
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Macroglossia, Mucopolysacchariduria, ... OMIM:618440
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... ORPHA:91347
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Branchiootorenal Syndrome 1
Intestinal malrotation, Unilateral renal agenesis, Cleft palate, Euthyroid goiter, High palate, P... OMIM:113650
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Abnormal fallopian tube morphology, A... ORPHA:722
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Aqueductal stenosis, Posteriorly placed anus, Hydrocephalus, Asplenia, Biliary atre... OMIM:306955
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyp... ORPHA:247806
Thyroid Ectopia
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism ORPHA:95712
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Tremor, Nystagmus, And Duodenal Ulcer
Abnormal cerebellum morphology, Duodenal ulcer OMIM:190310
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormality... ORPHA:1666
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... ORPHA:3047
Duodenal Atresia
Duodenal atresia OMIM:223400
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Elevated urinary epinephrine lev... OMIM:162300
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Diabet... OMIM:614162
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Colpocephaly, Gastroesophageal reflux, Agenesis of cor... OMIM:301043
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Spina bifida, Horseshoe kidney, Gastroesopha... ORPHA:2092
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Tethered cord, Rectoperineal fistula, Multicystic kidney dysplasia,... OMIM:107480
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum, Thyroid C cell hyperplasia OMIM:300952
Diaphanospondylodysostosis
Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Feingold Syndrome Type 1
Renal insufficiency, Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Horseshoe kid... ORPHA:391641
Iniencephaly
Spina bifida, Hydrocephalus, Spinal dysraphism, Syringomyelia, Anal atresia, Dandy-Walker malform... ORPHA:63259
Phace Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ectopic thyroid, Hypothyroidism, Dandy-Walker... ORPHA:42775
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... OMIM:616858
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Abnormality of ... ORPHA:139466
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Abnormality of the ... ORPHA:84
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Thyroid carcinoma, ... ORPHA:276399
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Duodenal atresia OMIM:614114
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Asplenia, Re... OMIM:270100
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hypergastrinemia OMIM:126840
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... ORPHA:797
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Chylomicron Retention Disease
Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrh... ORPHA:71
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horsesh... OMIM:235510
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyposis, Multiple gastric pol... OMIM:175100
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Pelvic kidney, Cleft palate, Duodenal atresia OMIM:247200
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Ectopic k... OMIM:135900
Tarp Syndrome
Cerebellar vermis hypoplasia, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High ... OMIM:311900
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Trisomy 8P
Cryptorchidism, Hydrocephalus, Malrotation of small bowel, Cleft palate, Micropenis, Nephrocalcin... ORPHA:264450
Congenital Tracheal Stenosis
Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Phace Association
Lingual thyroid, Cerebellar hypoplasia, Dandy-Walker malformation, Congenital hypothyroidism OMIM:606519
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Urinary bladder sphincter dys... ORPHA:53721
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... OMIM:611376
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvu... ORPHA:672
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Acute Disseminated Encephalomyelitis
Viral hepatitis, Abnormal spinal cord morphology, Abnormal cerebellum morphology, Myelitis ORPHA:83597
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Splenomegaly, ... OMIM:619381
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Vaginal dryness, Glomerulonephr... ORPHA:289390
Adrenomyeloneuropathy
Urinary incontinence, Atrophy of the spinal cord, Abnormal spinal cord morphology, Primary adrena... ORPHA:139399
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glos... ORPHA:861
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... OMIM:619991
Genitopatellar Syndrome
Anal stenosis, Multicystic kidney dysplasia, Small scrotum, Clitoral hypertrophy, Enlarged labia ... OMIM:606170
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megacystis, Hydronephrosis, U... OMIM:155310
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal cerebellum morphology, Abnormal spinal cord morph... ORPHA:68
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Eosinophilia, Spina bifida, Pancreatic cysts,... OMIM:274000
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Horseshoe kidney, Glossoptosis, Cereb... ORPHA:2886
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Myelopathy, Abnormal spinal cord morphology, Primary adrena... ORPHA:139396
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parot... ORPHA:79078
Whim Syndrome
Abnormal small intestine morphology, Abnormal neutrophil morphology, Neutropenia, Cervix cancer, ... ORPHA:51636
Superficial Siderosis
Cerebellar atrophy, Enlarged sylvian cistern, Atrophy of the spinal cord, Abnormal spinal cord mo... ORPHA:247245
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Acanthocytosis, Hypothyroidism, Hep... ORPHA:14
Scedosporiosis
Diabetes mellitus, Abnormal jejunum morphology ORPHA:449280
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Renal insufficiency, Diabetes mellitus, Gastritis, He... ORPHA:73263
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia... OMIM:219000
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... OMIM:620186
Wolf-Hirschhorn Syndrome
Accessory spleen, Tethered cord, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, ... OMIM:194190
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Duodenal atresia OMIM:618846
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... ORPHA:261584
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multinodular goiter, Adenocarcinoma of the colon OMIM:620189
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hematoc... OMIM:618183
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Gastrointestinal dysmotility ORPHA:88628
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Abnormal spinal cord morphology, Hydrocephalus, Biliary atres... ORPHA:3310
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Cleft soft palate, Decreased response to growth hormone stimulation test, Porta... OMIM:619503
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Renal cyst, Hepatoblastoma, Agenesis of corpus callosum, Exaggerate... OMIM:312870
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Limb Body Wall Complex
Spina bifida, Abnormal spinal cord morphology, Hydrocephalus, Cleft palate, Abnormality of the li... ORPHA:2369
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Precocious puberty, Stage 5 chronic kidney disease, ... ORPHA:2044
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Pmm2-Cdg
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Hypogonadotropic hypogonadism, Prote... ORPHA:79318
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome, High pal... OMIM:601776
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis, Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Stüve-Wiedemann Syndrome
Hypothyroidism, Smooth tongue, Ectopic thyroid ORPHA:3206
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis,... OMIM:136140
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Hematochezia, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Mosaic Trisomy 20
Cryptorchidism, Abnormal spinal cord morphology, Cleft palate, Horseshoe kidney ORPHA:1724
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Hepatic arteriovenous malformation, Polycythemia, Hematemesis, Tongue telangiectas... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Brain abscess, Hepatic arteriovenous malformation, Polycythemia, Hem... OMIM:187300
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion OMIM:248510
Beta-Mannosidosis
ORPHA:118

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 Manba

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 Manba.

No publications found that use IMPC mice or data for Manba.

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MGI Allele Allele Type Produced
Manbatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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