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Gene: Spdef MGI:1353422

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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:
SAM pointed domain containing ets transcription factor
Synonyms:
PDEF,  Pse

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 Spdef 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 Spdef by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Gastric Cancer
Stomach cancer OMIM:613659
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Jejunal Atresia
Jejunal atresia OMIM:243600
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:616576
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abdominal pain ORPHA:234
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure ORPHA:664
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Reynolds Syndrome
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,... ORPHA:779
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Atopic dermatitis OMIM:614262
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Gastritis, Skin rash, Myocarditis, Xerostomi... ORPHA:809
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Fg Syndrome 3
Pyloric stenosis, Chronic constipation, Feeding difficulties OMIM:300406
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... OMIM:240300
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Feeding difficulties OMIM:617219
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric stenosis, Recurrent pneumo... OMIM:615577
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... ORPHA:227990
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis OMIM:616924
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention OMIM:256300
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... ORPHA:227982
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Syndromic Diarrhea
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hepatoblastoma, Dependency on intravenous n... ORPHA:84064
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Duodenal Atresia
Duodenal atresia OMIM:223400
Chronic Granulomatous Disease
Sinusitis, Eczema, Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Otitis media, Infl... ORPHA:379
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, Feeding difficulties, High palate, Recurrent otitis media, Bifid ... ORPHA:96184
Ethylene Glycol Poisoning
Gastritis, Vomiting, Nausea ORPHA:31826
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... OMIM:615846
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Trisomy 18P
High, narrow palate, Pyloric stenosis ORPHA:1715
Autoinflammatory-Pancytopenia Syndrome
Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chronic diarrhea OMIM:619858
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis OMIM:218350
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Dysphagia OMIM:619461
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, High palate, Tube feeding OMIM:310400
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis ORPHA:3189
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Feeding difficulties OMIM:616395
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79406
Griscelli Syndrome
Pyloric stenosis, Hepatitis ORPHA:381
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis ORPHA:169189
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79411
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s... OMIM:613960
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, High palate OMIM:248700
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Gastroesophageal reflux, Cleft palate, Feeding difficulties ORPHA:261197
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... ORPHA:93932
Intussusception
Intussusception OMIM:147710
Lowry-Maclean Syndrome
Midgut malrotation, High, narrow palate, Pyloric stenosis, Cleft palate ORPHA:2409
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Bronchogenic Cyst
Pneumonia, Abdominal pain, Abnormal stomach morphology, Dysphagia, Abnormal esophagus morphology ORPHA:2357
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Ileus, Recurrent pneumonia, Feeding difficulties, Constipation, Dysphagia OMIM:613327
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Zellweger Syndrome
Malabsorption, Feeding difficulties in infancy, Pyloric stenosis, High palate, Hepatic failure ORPHA:912
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Cleft palate ORPHA:435638
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... ORPHA:331235
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Pyloric stenosis, Gastrointestinal dysmotility, Macroglossia, Gastro... ORPHA:363705
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea ORPHA:457279
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Koolen-De Vries Syndrome
Feeding difficulties in infancy, High, narrow palate, Pyloric stenosis, Narrow palate, Cleft palate ORPHA:96169
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Kleefstra Syndrome
Bowel incontinence, Pyloric stenosis, Macroglossia, Constipation, Gastroesophageal reflux, Chroni... ORPHA:261494
2Q37 Microdeletion Syndrome
Pyloric stenosis, Eczema ORPHA:1001
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Pneumonia, Abdominal distention, Diarrhea, Peritonitis, Dependency on ... OMIM:619991
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Cleft palate OMIM:263750
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Opitz-Kaveggia Syndrome
Anal stenosis, Intestinal malrotation, Pyloric stenosis, Narrow palate, Cleft palate, Anteriorly ... OMIM:305450
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Chromosome 13Q33-Q34 Deletion Syndrome
Anteriorly placed anus, Pyloric stenosis, High palate, Anal atresia OMIM:619148
Knobloch Syndrome 2
Pyloric stenosis, Chronic constipation OMIM:618458
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... ORPHA:3342
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis OMIM:614438
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... ORPHA:793
Koolen-De Vries Syndrome
Eczema, Feeding difficulties in infancy, Pyloric stenosis, Narrow palate, Cleft palate, High palate OMIM:610443
Ulnar-Mammary Syndrome
Pyloric stenosis, Ectopic anus, Anal atresia ORPHA:3138
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... OMIM:249100
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Apert Syndrome
Acne, Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Ectopic anus, Chronic ot... OMIM:101200
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Const... ORPHA:3463
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Recurrent pneumonia, Gastroesophageal reflux, Vomiting, Recurrent otitis media OMIM:150230
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation ORPHA:79410
Cornelia De Lange Syndrome 1
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cleft pala... OMIM:122470
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Recurrent pneumonia OMIM:613848
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis OMIM:619652
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, Gastroesophageal re... OMIM:613177
Distal 22Q11.2 Microdeletion Syndrome
Bowel incontinence, High, narrow palate, Pyloric stenosis, Cleft palate, Ankyloglossia ORPHA:261330
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Pyloric stenosis, Arthritis ORPHA:93111
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Hepatocellular ca... ORPHA:186
Dyrk1A-Related Intellectual Disability Syndrome
Eczema, Pyloric stenosis, Feeding difficulties, Gastroesophageal reflux, Vomiting, Duodenal atresia ORPHA:464306
Jacobsen Syndrome
Intestinal malrotation, Eczema, Feeding difficulties in infancy, Pyloric stenosis, Abnormality of... ORPHA:2308
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Myoectodermal Gonadal Dysgenesis Syndrome
Pyloric stenosis, Anal atresia OMIM:618419
Williams Syndrome
Colonic diverticula, Nausea and vomiting, Peptic ulcer, Malabsorption, Abdominal pain, Abnormal g... ORPHA:904
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding difficultie... ORPHA:512
Marshall-Smith Syndrome
Pyloric stenosis, Feeding difficulties, Anteriorly placed anus, Glossoptosis, High palate, Aspira... OMIM:602535
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Distal Deletion 12Q
Late onset atopic dermatitis, High, narrow palate, Esophageal atresia, Pyloric stenosis, Microglo... ORPHA:96149
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Small bowel diverticula ORPHA:90349
Hennekam Syndrome
Pyloric stenosis, Erysipelas, Malabsorption ORPHA:2136
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Eczema, Pyloric stenosis, Gastrointestinal dysmoti... OMIM:270400
Marden-Walker Syndrome
Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Feeding difficulties, Bifid uvula ORPHA:2461
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Jacobsen Syndrome
Pyloric stenosis OMIM:147791
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cleft soft palate, Pyloric stenosis, Nasogastric tube feeding in infancy, Feeding difficulties, C... ORPHA:268261
Degcags Syndrome
Jejunal atresia, Pneumonia, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hiatu... OMIM:619488
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Gastroeso... ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pyloric s... ORPHA:83617
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
1P36 Deletion Syndrome
Feeding difficulties in infancy, Pyloric stenosis, Gastroesophageal reflux, Abnormal intestine mo... ORPHA:1606
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Cutis Laxa, Autosomal Recessive, Type Iic
Pyloric stenosis, High palate, Median cleft palate OMIM:617402
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Gastrointestinal inflam... ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... ORPHA:79408
Cornelia De Lange Syndrome
Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, High pal... ORPHA:199
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Knobloch Syndrome 1
Pyloric stenosis OMIM:267750
Mowat-Wilson Syndrome
Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submucous cleft hard palate, Cleft... OMIM:235730
Costello Syndrome
Macroglossia, High palate, Pyloric stenosis, Poor suck OMIM:218040
Ulnar-Mammary Syndrome
Pyloric stenosis, Anal stenosis, Anal atresia OMIM:181450
Yunis-Varon Syndrome
High, narrow palate, Glossoptosis, Pyloric stenosis ORPHA:3472
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix, Bacterial endocarditis, Feeding difficulties ORPHA:2072
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Cholangitis, Celiac disease, Hematemesis, Abdominal pa... OMIM:301068
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99226
Branchiooculofacial Syndrome
Malrotation of colon, Pyloric stenosis, Gastroesophageal reflux, Cleft palate OMIM:113620
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cleft palate, Gastric ul... OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cleft palate, Sub... ORPHA:261537
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High palate, Recur... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cleft palate, Sub... ORPHA:261552
Yunis-Varon Syndrome
Pyloric stenosis, High palate, Aspiration pneumonia, Feeding difficulties OMIM:216340

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 Spdef

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 Spdef.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Spdeftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Spdeftm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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