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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, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Spinal cord compression, Papillary thyroid carcinoma, Nodul... ORPHA:319487
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Ventriculomegaly, Chiari malformation, Polysplenia, Decreased response to growt... OMIM:617784
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... ORPHA:64743
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Abnormality of chromosome stability, Aplastic anemia, Hypogonadism, Cerebellar ... OMIM:300514
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepa... OMIM:243150
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma, Goiter OMIM:616534
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
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, Papillary thyroid carcinoma, Goiter, Colon cancer ORPHA:97290
Fryns Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Ventriculomegaly, Intestinal malrotation, ... ORPHA:2059
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Bilateral renal hypoplasia, Intestinal malrotatio... OMIM:243605
Cowden Syndrome 1
Varicocele, Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Thyroid adenoma, Goi... OMIM:158350
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Ventriculomegaly, Leukemia, Bifid scrotum, Cryptorchidism, Agenesis... OMIM:257300
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Cowden Syndrome 6
Varicocele, Colonic diverticula, Thyroid adenoma, Goiter, Furrowed tongue, Ovarian cyst, Hypothyr... OMIM:615109
Cowden Syndrome 5
Colonic diverticula, Thyroid adenoma, Goiter, Furrowed tongue, Ovarian cyst, Hypothyroidism, Hype... OMIM:615108
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Abnormal small intestine morphology, Splenomegaly ORPHA:100025
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Secondary Short Bowel Syndrome
Central hypothyroidism, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morpholo... ORPHA:95427
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Megacystis, Congenital hypothyroi... ORPHA:209905
Alg6-Cdg
Protein-losing enteropathy, Puberty and gonadal disorders, Abnormality of the liver, Cerebellar h... ORPHA:79320
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Goiter, Puberty and gona... ORPHA:525731
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia, Renal insufficiency, Euthyroid goiter ORPHA:3327
Microform Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Hypothyroidism, Ambiguous genitalia, Maternal di... ORPHA:280200
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Microglossia, Hydroureter, Anteriorly placed anus, Decrease... OMIM:146510
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... ORPHA:733
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Proximal tubulopathy, Hepatic failure, Villous atro... OMIM:602579
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Mpi-Cdg
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Decreased liver functi... ORPHA:79319
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Nodular goiter, Dysphagia ORPHA:142
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dysphagia ORPHA:97285
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Fryns Syndrome
Ectopic pancreatic tissue, Meckel diverticulum, Bifid scrotum, Polysplenia, Intestinal malrotatio... OMIM:229850
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test, Leukopenia... OMIM:603467
Ascher Syndrome
High palate, Hypothyroidism, Goiter ORPHA:1253
Mosaic Trisomy 9
Hypoplastic female external genitalia, Ventriculomegaly, Abnormality of the uterus, Intestinal ma... ORPHA:99776
Alg1-Cdg
Protein-losing enteropathy, Cerebellar atrophy, Decreased liver function, Renal insufficiency, Ab... ORPHA:79327
Bangstad Syndrome
Pancytopenia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Decreased liver function, Cholestasis, Decreased circulating T4 conce... OMIM:608104
Pendred Syndrome
Nephropathy, Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism ORPHA:705
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Cerebellar hemisphere... ORPHA:456312
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Micropha... ORPHA:468631
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Plasminogen Deficiency, Type I
Nephritis, Ventriculomegaly, Nephrolithiasis, Cerebellar hypoplasia, Hydrocephalus, Duodenal ulce... OMIM:217090
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Ventriculomegaly, Hepatitis, Decreased FOXP3-expressing T cell count, V... OMIM:304790
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Von Hippel-Lindau Syndrome
Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Multiple renal cysts, Spinal hem... OMIM:193300
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventriculomegaly, Annular pancreas, Intestinal malrotation, Cryptor... ORPHA:2308
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Ventriculomegaly, Vaginal neoplasm, Stomach cancer, Intestinal poly... ORPHA:1052
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Blepharochalasis And Double Lip
Goiter OMIM:109900
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Abnormality of the uterus, Pancrea... ORPHA:1655
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Pancreatic lymphangiectasis, Crypt... OMIM:235255
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Agenesis of c... ORPHA:163961
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Cog8-Cdg
Protein-losing enteropathy, Ventriculomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:95428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventriculomegaly, Meckel diverticulum, Chiari malformation,... OMIM:265380
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... OMIM:300048
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu... OMIM:171400
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Hydronephrosis, Gastrointestinal dysmotility, Micropenis,... OMIM:617798
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology, Cleft palate ORPHA:494
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Furro... ORPHA:201
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Type II diabetes mellitus, Pr... ORPHA:870
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Cerebellar atrophy, Elevated circulating hepatic transaminase concentrat... ORPHA:254892
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia, Polysplenia OMIM:619608
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atr... OMIM:619227
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Ventriculomegaly, Gastroesophageal reflux, Annular pancreas, Hypopl... OMIM:616975
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormality of the hypothalamus-pituitary axis, Intestinal malrotation, Cryptorchidism, Cerebella... ORPHA:2166
Oculoskeletodental Syndrome
Protein-losing enteropathy, Cryptorchidism, Splenomegaly, Mucopolysacchariduria, Hypothyroidism, ... OMIM:618440
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy... OMIM:137920
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Maturity-onset diabetes o... ORPHA:96149
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Ventriculomegaly, Gastroesophageal reflux, Breast hypoplasia, Cryptorc... ORPHA:464306
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, A... ORPHA:1199
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Abnormal spinal cord morphology ORPHA:99947
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Ventriculomegaly, Gastroesophageal reflux, Cryptorchidism, Posterior p... ORPHA:464311
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... ORPHA:398063
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u... ORPHA:653
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal... ORPHA:92050
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Cutaneous abscess, ... OMIM:147060
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatou... ORPHA:220460
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Branchiootorenal Syndrome 1
Bifid uvula, Unilateral renal agenesis, Euthyroid goiter, Intestinal malrotation, Vesicoureteral ... OMIM:113650
Hypoplasminogenemia
Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Hydrocephalus, Dan... ORPHA:722
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Thyroid agenesis, Hypothyroidism, Neopl... ORPHA:3047
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:91347
Heterotaxy, Visceral, 1, X-Linked
Polysplenia, Abdominal situs inversus, Horseshoe kidney, Posteriorly placed anus, Biliary atresia... OMIM:306955
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer, Abnormal cerebellum morphology OMIM:190310
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Leukocytosis, Anemia, Abnormality of the gastrointestin... ORPHA:2070
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Immunodeficiency 31C
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmune hemolytic anem... OMIM:614162
Duodenal Atresia
Duodenal atresia OMIM:223400
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Pheochro... OMIM:162300
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... OMIM:617100
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotatio... ORPHA:1666
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Agenesis of corpus cal... OMIM:301043
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Gastroesophageal reflux, Horseshoe kidney, Acute hepatic failure, H... ORPHA:2092
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Tethered cord, Multicystic kidney dysplasia, Bifid scrotu... OMIM:107480
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Diaphanospondylodysostosis
Horseshoe kidney, Cleft palate, Enlarged kidney, Cystic renal dysplasia, Abnormal liver lobulation OMIM:608022
Gardner Syndrome
Gastrointestinal carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Prostate cance... ORPHA:79665
Phace Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hypothyroidism, Dandy-Walker malformation, Ec... ORPHA:42775
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Cerebellar atrophy, Ureteral stenosis, Abdominal situs inversus, Intestinal mal... OMIM:270100
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejunal atresia, Hydrone... ORPHA:391641
Iniencephaly
Spinal dysraphism, Syringomyelia, Spina bifida, Hydrocephalus, Anal atresia, Duodenal atresia, Da... ORPHA:63259
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchid... OMIM:620371
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, High palate, Anal atresia, Hypospadias, Abnormal... ORPHA:84
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... OMIM:164280
Cowden Syndrome 7
Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid ... OMIM:616858
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Abnormality of the adrenal glands, Hypospa... ORPHA:139466
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neopl... ORPHA:276399
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure... OMIM:155310
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Hypothyroidism, Duodenal atresia OMIM:614114
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Intestinal bleeding, Abnormal large intestine morpholo... ORPHA:90291
Alstrom Syndrome
Nephritis, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes me... OMIM:203800
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hypergastrinemia, Duodenal ulcer OMIM:126840
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Pelvic kidney, Duodenal atresia, Cleft palate OMIM:247200
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux,... OMIM:235510
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Horseshoe kidney, Vesicoure... OMIM:115470
Sarcoidosis
Abnormal reproductive system morphology, Hepatomegaly, Tubulointerstitial nephritis, Enlargement ... ORPHA:797
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic... ORPHA:2929
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Intestinal malrotation, Partial agenesis of ... OMIM:135900
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Adrenocortical adenoma, Duodenal adenocarcinoma, Duodenal polyposis, ... ORPHA:247806
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Charge Syndrome
Lymphopenia, Cryptorchidism, Hypoparathyroidism, Anal atresia, Dysphagia, Duodenal atresia, Parat... OMIM:214800
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Cryptorchidism, Agen... ORPHA:264450
Tarp Syndrome
Cerebellar vermis hypoplasia, Hepatic failure, Meckel diverticulum, Horseshoe kidney, Cerebellar ... OMIM:311900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit... OMIM:175500
Phace Association
Cerebellar hypoplasia, Congenital hypothyroidism, Dandy-Walker malformation, Lingual thyroid OMIM:606519
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Pancreatic cysts, Neoplasm of the pancrea... ORPHA:892
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... OMIM:611376
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Urinary bladder sphincter dys... ORPHA:53721
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A... ORPHA:141127
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Xerostomia, Parotitis, Chronic active hepatitis, Lymphopeni... ORPHA:289390
Acute Disseminated Encephalomyelitis
Myelitis, Abnormal cerebellum morphology, Abnormal spinal cord morphology, Viral hepatitis ORPHA:83597
Treacher-Collins Syndrome
Small scrotum, Rectovaginal fistula, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the... ORPHA:861
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina... ORPHA:512
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Hy... OMIM:619991
Adrenomyeloneuropathy
Urinary retention, Urinary bladder sphincter dysfunction, Adrenal insufficiency, Primary adrenal ... ORPHA:139399
Genitopatellar Syndrome
Small scrotum, Malrotation of small bowel, Anal stenosis, Clitoral hypertrophy, Multicystic kidne... OMIM:606170
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Tarp Syndrome
Extramedullary hematopoiesis, Horseshoe kidney, Cryptorchidism, Cerebellar hypoplasia, Hydronephr... ORPHA:2886
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Adr... OMIM:175100
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration OMIM:618372
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Myelopathy, Primary adrenal insufficiency, Decreased circulating cortisol leve... ORPHA:139396
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Meckel diverticulum, Horseshoe kidney, Hepatosplenomegaly, Vesicour... OMIM:274000
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Abnormal medulla oblongata morphology, Granuloma, Abnormal cerebe... ORPHA:68
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Whim Syndrome
Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine morphology, Neut... ORPHA:51636
Diets-Jongmans Syndrome
Hypospadias, Duodenal atresia, Cryptorchidism OMIM:618846
Superficial Siderosis
Functional abnormality of the bladder, Cerebellar atrophy, Atrophy of the spinal cord, Abnormal s... ORPHA:247245
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Elevated circulating thyroid-stimulating hormone concen... OMIM:618183
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Nephritis, Brain abscess, Hepatitis... ORPHA:73263
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Gastroesophageal reflux, Absent nipple, Ankyloglossia, Congenital hypothyroidism, Ap... OMIM:620186
Scedosporiosis
Abnormal jejunum morphology, Diabetes mellitus ORPHA:449280
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Malrotation of small bowel, Gastroesophageal reflux, Ventri... OMIM:194190
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Abnormal small intestine morphology, Cryptorchidism, Abno... OMIM:219000
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Adenocarcinoma of the colon, Cervix cancer, Multinodular goiter OMIM:620189
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal renal physiology, Abnormal small intestinal villus mo... ORPHA:2290
Tetrasomy 9P
Bifid uvula, Horseshoe kidney, Median cleft palate, Cryptorchidism, Absent gallbladder, Biliary a... ORPHA:3310
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Unilateral renal agenesis, Ventriculomegaly, Decreased response to growth ... OMIM:619503
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gastrointestinal dysmotility, Abnormal spinal cord morphology ORPHA:88628
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia, Nephrolithiasis ORPHA:521445
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callos... OMIM:312870
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Ventriculomegaly, Intestinal malrotation, Cryptorchidism, Hiatus hernia, Hydronephrosis, Abnormal... OMIM:601776
Limb Body Wall Complex
Abnormality of the liver, Abnormal intestine morphology, Spina bifida, Abnormal spinal cord morph... ORPHA:2369
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Gastroesophageal reflux, Stage 5 chronic kidney... ORPHA:2044
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Pmm2-Cdg
Cerebellar vermis hypoplasia, Hepatic fibrosis, Elevated circulating hepatic transaminase concent... ORPHA:79318
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
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Hydronephrosis, Celiac disea... OMIM:136140
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Iron deficiency anemia, Adenomatous colo... ORPHA:261584
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Tongue telangiectasia, Intestinal p... ORPHA:774
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arterioven... OMIM:175050
Mosaic Trisomy 20
Horseshoe kidney, Abnormal spinal cord morphology, Cryptorchidism, Cleft palate ORPHA:1724
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Brain abscess, Polycythemia, Tongue telangiectasia, Spinal arteriovenous malformati... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hematochezia, Gastrointestinal hemorrhage, Brain abscess, Polycythemia, Tongue telangiectasia, Sp... 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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