Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

SAM pointed domain containing ets transcription factor
PDEF,  Pse

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Jejunal Atresia
Jejunal atresia OMIM:243600
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent skin infections, Bronchie... OMIM:616576
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphocytic infiltr... OMIM:616100
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea ORPHA:2575
Dubin-Johnson Syndrome
Abdominal pain, Abnormal gastric mucosa morphology ORPHA:234
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Ornithine Transcarbamylase Deficiency
Hepatic failure, Pyloric stenosis ORPHA:664
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atopic dermatitis, Pyloric stenosis OMIM:614262
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious en... ORPHA:779
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Myositis, Gastritis,... ORPHA:809
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Inflammation of the large intestine, Crohn's disease OMIM:615767
Fg Syndrome 3
Feeding difficulties, Chronic constipation, Pyloric stenosis OMIM:300406
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, Keratoconjunctivi... OMIM:240300
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Feeding difficulties, Pyloric stenosis OMIM:617219
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis ORPHA:314575
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Frequent Giardia lamblia infestation, Recurrent otitis media, Psoriasiform d... OMIM:615577
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis ORPHA:3189
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Iridocyclitis, Keratoconjunctivi... ORPHA:227990
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni... ORPHA:157798
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis OMIM:616924
Alpha-1-Antitrypsin Deficiency
Gastric varix, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Abdominal distention, Pyloric stenosis OMIM:256300
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Arthritis, Acne ORPHA:69126
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Hashimoto thyroiditis, Iridocycl... ORPHA:227982
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Houge-Janssens Syndrome 1
Chronic diarrhea, Pyloric stenosis OMIM:616355
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... ORPHA:84064
Duodenal Atresia
Duodenal atresia OMIM:223400
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Recurrent otitis media, Feeding difficulties, High palate, Cleft palate, Pyloric ste... ORPHA:96184
Chronic Granulomatous Disease
Eczematoid dermatitis, Malabsorption, Otitis media, Tracheoesophageal fistula, Sinusitis, Inflamm... ORPHA:379
Ethylene Glycol Poisoning
Nausea, Gastritis, Vomiting ORPHA:31826
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Atopic dermatitis, Hepatitis, Chilblains, ... OMIM:615846
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Dysphagia, Pyloric stenosis OMIM:619461
Trisomy 18P
High, narrow palate, Pyloric stenosis ORPHA:1715
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulone... ORPHA:3261
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis OMIM:218350
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Autoinflammatory-Pancytopenia Syndrome
Chilblains, Chronic diarrhea, Intestinal inflammation, Membranoproliferative glomerulonephritis OMIM:619858
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... OMIM:619573
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Myopathy, Centronuclear, X-Linked
High palate, Tube feeding, Pyloric stenosis OMIM:310400
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Feeding difficulties, Pyloric stenosis OMIM:616395
Graft Versus Host Disease
Pneumonia, Vomiting, Diarrhea, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, ... ORPHA:39812
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Intestinal malr... ORPHA:1199
Griscelli Syndrome
Hepatitis, Pyloric stenosis ORPHA:381
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis ORPHA:169189
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Intussusception OMIM:147710
Proximal 16P11.2 Microdeletion Syndrome
Feeding difficulties, Gastroesophageal reflux, Cleft palate, Pyloric stenosis ORPHA:261197
Marden-Walker Syndrome
High, narrow palate, Zollinger-Ellison syndrome, High palate, Cleft palate, Pyloric stenosis OMIM:248700
Bronchogenic Cyst
Pneumonia, Abnormal stomach morphology, Abnormal esophagus morphology, Abdominal pain, Dysphagia ORPHA:2357
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Ileus, Constipation, Dysphagia, Feeding difficulties, Pyloric stenosis OMIM:613327
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Fg Syndrome Type 1
Abnormal large intestine morphology, Gastroesophageal reflux, Anal atresia, Constipation, High pa... ORPHA:93932
Lowry-Maclean Syndrome
High, narrow palate, Pyloric stenosis, Cleft palate, Midgut malrotation ORPHA:2409
3P25.3 Microdeletion Syndrome
High, narrow palate, Cleft palate, Pyloric stenosis ORPHA:435638
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Zellweger Syndrome
Hepatic failure, Malabsorption, Feeding difficulties in infancy, High palate, Pyloric stenosis ORPHA:912
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Cutaneous abscess, Otitis... ORPHA:331235
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis ORPHA:457279
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Gastrointestinal dysmotility, Macroglossia,... ORPHA:363705
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
2Q37 Microdeletion Syndrome
Eczematoid dermatitis, Pyloric stenosis ORPHA:1001
Kleefstra Syndrome
Gastroesophageal reflux, Constipation, Macroglossia, Chronic otitis media, Bowel incontinence, Py... ORPHA:261494
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Koolen-De Vries Syndrome
High, narrow palate, Feeding difficulties in infancy, Narrow palate, Cleft palate, Pyloric stenosis ORPHA:96169
Viss Syndrome
Cleft soft palate, Chronic constipation, Abdominal distention, Celiac disease, High palate, Dysph... OMIM:619472
Liver Disease, Severe Congenital
Pneumonia, Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Eczematoid dermatitis... OMIM:619991
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Cleft palate, Midgut malrotation OMIM:263750
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Anteriorly placed anus, Intestinal malrotation, Constipation, Anal ... OMIM:305450
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Anal atresia, Anteriorly placed anus, Pyloric stenosis OMIM:619148
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Hepatic failure, Gastric varix, Cholecystitis, Esophageal varix OMIM:620367
Knobloch Syndrome 2
Chronic constipation, Pyloric stenosis OMIM:618458
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus hernia, Myocarditis, Pyloric st... ORPHA:3342
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis OMIM:614438
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Koolen-De Vries Syndrome
Eczematoid dermatitis, Feeding difficulties in infancy, High palate, Narrow palate, Cleft palate,... OMIM:610443
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Ulnar-Mammary Syndrome
Anal atresia, Ectopic anus, Pyloric stenosis ORPHA:3138
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Familial Mediterranean Fever
Vomiting, Diarrhea, Erysipelas, Chronic constipation, Crohn's disease, Orchitis, Episodic abdomin... OMIM:249100
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Pyloric stenosis OMIM:613848
Apert Syndrome
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Acne, Chronic otitis media, Cleft p... OMIM:101200
Cornelia De Lange Syndrome 1
High, narrow palate, Pneumonia, Gastroesophageal reflux, Otitis media, Hiatus hernia, High palate... OMIM:122470
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Vomiting, Gastroesophageal reflux, Recurrent otitis media, Chronic gastritis OMIM:150230
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Constipation, Gastri... ORPHA:3463
Cutis Laxa, Autosomal Recessive, Type Ic
Recurrent pneumonia, Gastroesophageal reflux, Rectal prolapse, Feeding difficulties, Pyloric sten... OMIM:613177
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis, Chronic diarrhea OMIM:619652
Fraser-Like Syndrome
Subglottic stenosis OMIM:229230
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Ankyloglossia, Bowel incontinence, Cleft palate, Pyloric stenosis ORPHA:261330
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Arthritis, Pyloric stenosis ORPHA:93111
Dyrk1A-Related Intellectual Disability Syndrome
Vomiting, Gastroesophageal reflux, Eczematoid dermatitis, Duodenal atresia, Feeding difficulties,... ORPHA:464306
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent pneumonia, Small bowel diverticula, Pyloric stenosis ORPHA:90349
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Jacobsen Syndrome
Eczematoid dermatitis, Intestinal malrotation, Ectopic anus, Constipation, Abnormality of the anu... ORPHA:2308
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Primary Biliary Cholangitis
Hepatic failure, Hepatitis, Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Cel... ORPHA:186
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Pyloric stenosis OMIM:618419
Williams Syndrome
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Malabsorption, Nausea and vomiting, A... ORPHA:904
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, N... ORPHA:512
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Anteriorly placed anus, Aspiration pneumonia, High palate, Glosso... OMIM:602535
Distal Deletion 12Q
High, narrow palate, Microglossia, Esophageal atresia, Late onset atopic dermatitis, Duodenal atr... ORPHA:96149
Smith-Lemli-Opitz Syndrome
Bifid uvula, Gastroesophageal reflux, Microglossia, Vomiting, Eczematoid dermatitis, Poor suck, I... OMIM:270400
Marden-Walker Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate, Feeding difficulties, Pyloric stenosis ORPHA:2461
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Jacobsen Syndrome
Pyloric stenosis OMIM:147791
Hennekam Syndrome
Malabsorption, Erysipelas, Pyloric stenosis ORPHA:2136
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gastroesophageal reflux, Poor suck, Cleft soft palate, Constipation, Nasogastric tube feeding in ... ORPHA:268261
Degcags Syndrome
Pneumonia, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Poor suc... OMIM:619488
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Microglossia, Aganglionic megacolon, Feeding difficulties in infancy, Bi... ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Gastrostomy tube ... ORPHA:83617
1P36 Deletion Syndrome
Gastroesophageal reflux, Abnormal intestine morphology, Feeding difficulties in infancy, Constipa... ORPHA:1606
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,... ORPHA:95455
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Anal fissure, Malnutrition, Ankyloglossia, Glomerulonephritis, Gastroint... ORPHA:79408
Cutis Laxa, Autosomal Recessive, Type Iic
High palate, Median cleft palate, Pyloric stenosis OMIM:617402
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis OMIM:187760
Knobloch Syndrome 1
Pyloric stenosis OMIM:267750
Cornelia De Lange Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Feeding difficulties in infancy, High ... ORPHA:199
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Vomiting, Malnutrition, Pyoderma, Constipation, Gastrointestinal inflammation, Recurre... ORPHA:79404
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Vomiting, Recurrent otitis media, Submucous cleft hard pala... OMIM:235730
Costello Syndrome
Macroglossia, High palate, Poor suck, Pyloric stenosis OMIM:218040
Ulnar-Mammary Syndrome
Anal atresia, Anal stenosis, Pyloric stenosis OMIM:181450
Yunis-Varon Syndrome
High, narrow palate, Glossoptosis, Pyloric stenosis ORPHA:3472
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Feeding difficulties, Gastric ulcer, Esophageal varix ORPHA:2072
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Hardikar Syndrome
Hepatic failure, Vomiting, Decreased liver function, Intestinal malrotation, Pyelonephritis, Clef... OMIM:301068
Branchiooculofacial Syndrome
Gastroesophageal reflux, Malrotation of colon, Cleft palate, Pyloric stenosis OMIM:113620
Coffin-Siris Syndrome 1
Intestinal malrotation, Feeding difficulties in infancy, High palate, Duodenal ulcer, Gastric ulc... OMIM:135900
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... ORPHA:2152
Atelosteogenesis Type I
Laryngotracheal stenosis, Laryngeal stenosis ORPHA:1190
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, Aganglionic megacol... ORPHA:261537
Chromosome 8Q22.1 Duplication Syndrome
Laryngeal stenosis OMIM:151200
Microphthalmia, Syndromic 1
High, narrow palate, Recurrent otitis media, Aganglionic megacolon, Anal atresia, High palate, Re... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, Aganglionic megacol... ORPHA:261552
Carey-Fineman-Ziter Syndrome
Laryngeal stenosis ORPHA:1358
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis ORPHA:93352
Yunis-Varon Syndrome
Aspiration pneumonia, High palate, Feeding difficulties, Pyloric stenosis OMIM:216340
Atelosteogenesis Type Ii
Laryngeal stenosis ORPHA:56304
Atelosteogenesis, Type I
Laryngeal stenosis OMIM:108720
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Laryngeal stenosis ORPHA:324540
Kindler Epidermolysis Bullosa
Laryngeal stenosis ORPHA:2908
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis OMIM:219000
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis ORPHA:2052
Vater/Vacterl Association
Laryngeal stenosis OMIM:192350


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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