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Gene: Nup35 MGI:1916732

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Gene Summary

Name:
nucleoporin 35
Synonyms:
2310006I24Rik,  5330402E05Rik

Order Alleles

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
enlarged cecum Nup35tm1b(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Nup35tm1b(EUCOMM)Wtsi HOM   Early adult 3.18×10-06

Download data as:  TSV  XLS

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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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Nup35 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 Nup35 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Dermotrichic Syndrome
Aganglionic megacolon, Anemia ORPHA:99688
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology ORPHA:897
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Inflammation of the large intestine, Colitis, Hemoph... OMIM:300635
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Interph... OMIM:613870
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Neonatal death, Decr... ORPHA:85284
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon ORPHA:275543
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Colitis, Hemophagocytosis, Anemia OMIM:613101
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ... ORPHA:353
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Aganglionic megacolon, Malabsorption ORPHA:452
Attrv122I Amyloidosis
Abnormal autonomic nervous system physiology, Left ventricular hypertrophy, Abnormal enteric nerv... ORPHA:85451
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Piebald Trait
Aganglionic megacolon OMIM:172800
Papular Xanthoma
Histiocytosis ORPHA:158008
Waardenburg Syndrome, Type 3
Scapular winging, Joint contracture of the hand, Aganglionic megacolon, Camptodactyly of finger OMIM:148820
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Intussusception
Intussusception OMIM:147710
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate ORPHA:66629
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Aganglionic megacolon, Anemia, Malabsorption ORPHA:935
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
American Trypanosomiasis
Splenomegaly, Achalasia, Aganglionic megacolon ORPHA:3386
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly OMIM:607624
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon ORPHA:52503
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Pheochromocytoma, Parathy... OMIM:171400
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Intestinal inflammation, Hepatosplenomegaly, Granuloma, Hemophagocytosis OMIM:619858
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614749
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the ab... ORPHA:2604
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, C... ORPHA:2059
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Myopathy, High palate, Pheochrom... OMIM:162300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Orofaciodigital Syndrome V
Aganglionic megacolon, Unilateral cryptorchidism, Hamartoma of tongue, Optic disc coloboma, Cleft... OMIM:174300
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Acute megakaryocytic leukemia, Macroglos... ORPHA:870
Piebaldism
Aganglionic megacolon ORPHA:2884
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Aganglionic megacolon, Cleft palate, Abnormal rectum morphology OMIM:239300
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate ORPHA:894
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Cryptorchidism, Flexion contracture, Optic atrophy, M... ORPHA:847
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongue morphology, Primary hyperparat... ORPHA:653
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614207
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula ORPHA:2919
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Supernumerary nipple, Anteriorly placed anus, High palate, Bifid uvula ORPHA:247262
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate ORPHA:220497
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Aganglionic megacolon OMIM:613266
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Splenomegaly, Ileus, Arthrogryposis multiplex congenita, Microcolon ORPHA:163746
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon OMIM:300352
Joubert Syndrome
Aganglionic megacolon ORPHA:475
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate ORPHA:220493
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cry... OMIM:229850
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Cleft palate, Ectopic anus, High palate, Anal atresia ORPHA:2473
Mednik Syndrome
Neonatal death, Volvulus, Jejunal atresia, Microcolon OMIM:609313
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Small thenar eminence, Pectoralis hypoplasia,... OMIM:607323
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:209880
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... ORPHA:2241
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Xerostomia, Smooth tongue ORPHA:1051
Mckusick-Kaufman Syndrome
Cryptorchidism, Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Aganglionic megacolon OMIM:613603
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Gastroesophageal refl... ORPHA:2896
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Colitis, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Aplasia/Hypoplasia of the abdominal wall musculature, Neutr... ORPHA:175
Bardet-Biedl Syndrome 1
Decreased testicular size, Aganglionic megacolon, High, narrow palate, High palate, Left ventricu... OMIM:209900
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Limb hypertonia OMIM:609460
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvul... ORPHA:84
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-blue histio... OMIM:257200
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Myeloproliferative dis... OMIM:190685
Toriello-Carey Syndrome
Aganglionic megacolon, Cryptorchidism, Cleft palate, Anteriorly placed anus, High palate ORPHA:3338
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon ORPHA:3339
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Foot dorsiflexor weakness, Decreased nerve conduction ... OMIM:214500
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
H Syndrome
Malabsorption, Microcytic anemia, Hepatosplenomegaly, Azoospermia, Camptodactyly, Decreased testi... ORPHA:168569
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Splenomegaly, Optic atrophy, Sea-blue histiocytosis, Dysphagia OMIM:230600
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Niemann-Pick Disease, Type C1
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Dysphagia OMIM:257220
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypoparathyroidism, Aganglionic megacolon, Intestinal malrotation, S... ORPHA:567
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... ORPHA:227990
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Congenital diaphragmatic hernia, Pyloric stenosis, Cryptorchidism, Optic a... ORPHA:818
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon ORPHA:959
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Gastrointestinal inflammation, Hepatosp... ORPHA:39812
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Annular pancreas, Anteriorly placed anus, Macroglossia, High... ORPHA:798
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Splenomegaly, Gastrointestinal dysmotility, Pylori... OMIM:270400
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Aganglionic megacolon, Cleft palate OMIM:154400
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Niemann-Pick Disease, Type C2
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Dysphagia OMIM:607625
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Abnormal eosinophil morphology, Hepatocellular carcinoma, Celiac disease, Spl... ORPHA:171
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Decreased nerve conduction velocity, Thrombocytopeni... ORPHA:167
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Mowat-Wilson Syndrome
Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Cryptorchidism, Generalized muscle... OMIM:235730
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Decreased response to growth hormone stimulation test, Splenomegaly, Elb... OMIM:602782
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left ... OMIM:600001
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Aganglionic megacolon, Camptodactyly of finger ORPHA:2273
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Neonatal death, Cryptorchidism, Aganglionic megacolon, Cleft palate OMIM:308205
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Op... OMIM:309800
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, Leukopenia, He... ORPHA:470
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Granulomatosis, Intestinal obstruction ORPHA:900
Sotos Syndrome
Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Cryptorchidism, Bilateral camp... ORPHA:821
Listeriosis
Brain abscess, Liver abscess, Abscess, Rhabdomyolysis, Abnormal cellular immune system morphology... ORPHA:533
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:222700
Mowat-Wilson Syndrome
Aganglionic megacolon, Asplenia, Pyloric stenosis, Gastrointestinal dysmotility, Cleft hard palat... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Asplenia, Pyloric stenosis, Cleft hard palate, Flexion contracture, Crypto... ORPHA:261537
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Granulomatosis ORPHA:93126
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Asplenia, Pyloric stenosis, Cleft hard palate, Flexion contracture, Crypto... ORPHA:261552
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710

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 Nup35

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 Nup35.

No publications found that use IMPC mice or data for Nup35.

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MGI Allele Allele Type Produced
Nup35tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nup35tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nup35tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Nup35tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nup35tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nup35tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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