Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 51, alpha subunit
Osta,  OSTalpha,  D630035O19Rik

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 Slc51a 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 Slc51a by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Conjugated hyperbilirubinemia OMIM:619484

The table below shows human diseases predicted to be associated to Slc51a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Chylomicron Retention Disease
Growth delay, Vomiting, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, D... OMIM:246700
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Prote... OMIM:615863
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Bile Acid Malabsorption, Primary, 1
Growth delay, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Vi
Hypercholesterolemia, Postnatal growth retardation, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Congenital Short Bowel Syndrome
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... OMIM:615237
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea, Fat malabsorption OMIM:614338
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Growth delay OMIM:306000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Short stature OMIM:616834
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Chylomicron Retention Disease
Growth delay, Vomiting, Hypocholesterolemia, Steatorrhea, Diarrhea, Fat malabsorption ORPHA:71
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Growth dela... ORPHA:95427
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea, Diarrhea, Fat malabsorption OMIM:607765
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy, Growth delay OMIM:251850
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Steatorrhea, Fat malabsorption OMIM:607748
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature OMIM:618160
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Squalene Synthase Deficiency
Intrauterine growth retardation, Hypocholesterolemia, Increased circulating farnesol concentratio... OMIM:618156
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Malabsorption, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abetalipo... ORPHA:96180
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Growth delay, Hyperbilirubinemia, Hypercholesterolemia, ... OMIM:605814
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption, Decreased circulating cortisol level OMIM:600955
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation OMIM:301033
Eosinophilic Gastroenteritis
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration, Vomiting, Mala... ORPHA:2070
Potocki-Lupski Syndrome
High palate, Short stature, Hypocholesterolemia, Oral-pharyngeal dysphagia, Gastroesophageal reflux OMIM:610883
Pancreatic Colipase Deficiency
Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption ORPHA:309108
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased prealbumin level, Celiac disease, Increased stool alpha1-antitrypsin c... ORPHA:90363
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Alpha-Heavy Chain Disease
Growth delay, Abnormality of the small intestine, Malabsorption, Hypocalcemia ORPHA:100025
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Diarrhea, Esophageal varix, Hypertriglyceridemia ORPHA:75234
Atresia Of Small Intestine
Intrauterine growth retardation, Vomiting, Short stature, Jejunal atresia, Intestinal malrotation... ORPHA:1201
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morpholo... ORPHA:92050
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Growth delay, Short stature, Diarrhea, Delayed pu... OMIM:614162
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... OMIM:619445
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Vomiting, Elevated serum 11-deoxycortisol, Abnormal circulating corti... ORPHA:556037
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Vomiting, Elevated serum 11-deoxycortisol, Abnormal circulating corti... ORPHA:556030
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Vomiting, Hypoalbuminemia, Diarrhea, Protein-losing enteropathy OMIM:602579
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hypomagnesemia, Glo... OMIM:175500
Decreased HDL cholesterol concentration, Vomiting, Hypocholesterolemia, Abnormal circulating apol... ORPHA:14
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Villous atrophy, Short stature, Increased circulating ferritin concentration, En... OMIM:616050
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Secretory diar... OMIM:618183
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Refractory Celiac Disease
Jejunitis, Hypoproteinemia, Villous atrophy, Hypophosphatemia, Malabsorption, Hypocalcemia, Chron... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Vomiting, Hypoalbuminemia, Diarrhea, Protein-losing enteropathy OMIM:608104
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Steato... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Diarrhea, Vomiting, Hypoalbuminemia OMIM:212065
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, Congenital shortened small intestine, ... OMIM:300048
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Kaufman Oculocerebrofacial Syndrome
High palate, Short stature, Hypocholesterolemia, Intestinal malrotation, Constipation OMIM:244450
Trichohepatoenteric Syndrome 2
Intrauterine growth retardation, Villous atrophy, Colitis, Decreased serum iron, Diarrhea OMIM:614602
Glycogen Storage Disease Ixc
Growth delay, Postnatal growth retardation, Hypertriglyceridemia OMIM:613027
Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropathy, Hypoalbuminemia ORPHA:79320
Chronic diarrhea, Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the gastrointestina... ORPHA:79327
Hyponatremia, Intrauterine growth retardation, Hypocholesterolemia, Intestinal malrotation, Hypoa... ORPHA:79324
Vomiting, Gastrointestinal hemorrhage, Hypoalbuminemia, Diarrhea, Protein-losing enteropathy ORPHA:79319
Hyperlipoproteinemia, Type I
Hyperlipidemia, Nausea, Vomiting, Lactescent serum, Hypercholesterolemia, Increased circulating c... OMIM:238600
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Diarrhea, Fat malabsorption OMIM:601847
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Aganglionic megacolon, Cleft palate, Intrauterine growth retardation, Vomiting,... OMIM:270400
Mitchell-Riley Syndrome
Intrauterine growth retardation, Duodenal atresia, Malabsorption, Jejunal atresia, Intestinal mal... OMIM:615710
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Growth delay, Increased stool alpha1-antitrypsin concentration, Functional abnor... ORPHA:90362
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Short stature, Melena, Intus... ORPHA:79076
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Diarrhea, Conjugated hyperbilirubinemia, Fat malabsorption OMIM:211600
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Duodenitis OMIM:614328
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer OMIM:616744
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Martinez-Frias Syndrome
Intrauterine growth retardation, Duodenal atresia, Jejunal atresia, Intestinal malrotation, Intes... OMIM:601346
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... ORPHA:90291
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Abnormal large intestine morphology, Abnormality of the small intestine, Elevated circulating cre... ORPHA:801
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Abetalipoproteinemia, Fat malabsorption OMIM:200100
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Bifid uvula, Diarrhea OMIM:601110
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Colitis, Esophageal stenosis OMIM:615190
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Villous atrophy, Hy... ORPHA:567983
Immunodeficiency 85 And Autoimmunity
Chronic diarrhea, Villous atrophy, Growth delay, Vomiting OMIM:619510
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Gastropa... OMIM:155310
Juvenile Polyposis Syndrome
Intestinal polyp, Rectal polyposis, Juvenile gastrointestinal polyposis, Hypoproteinemia, Stomach... ORPHA:2929
Oculoskeletodental Syndrome
Hypercalcemia, Short stature, Macroglossia, Hypocalcemia, Protein-losing enteropathy OMIM:618440
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Fat malabsorption OMIM:214950
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Netherton Syndrome
Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Intestinal lymphangiectasia, Narrow palate, H... OMIM:235510
Bare Lymphocyte Syndrome, Type Ii
Protracted diarrhea, Colitis, Villous atrophy, Malabsorption OMIM:209920
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Hypokalemia, Increased intestinal transit time, Incre... OMIM:619377
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, High palate, Postnatal growth retardation, Hypocalcemia, Protein-losing enteropathy ORPHA:1655
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula OMIM:223330
Immunodeficiency 87 And Autoimmunity
Cleft palate, Villous atrophy, Elevated circulating C-reactive protein concentration, Hypokalemia... OMIM:619573
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, High palate, Cleft palate, Hypocalcemia, Protein-losing enteropathy OMIM:235255
Colonic Atresia
Colonic atresia, Duodenal stenosis, Peptic ulcer ORPHA:1198
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Protein-losing enteropathy ORPHA:95428
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Short stature, Macroglossia, Anal atresia, Protruding t... OMIM:190685
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Fat malabsorption ORPHA:79302
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Rhizomelia, Meckel diverticulum, Short stature OMIM:602613
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Growth delay, Chronic diarrhea, Colitis OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Villous atrophy, Ileus OMIM:304790
Abnormal jejunum morphology ORPHA:449280
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Villous atrophy, Intrauterine growth retar... OMIM:222470
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Cleft palate, Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, C... OMIM:601776
Shwachman-Diamond Syndrome
Growth delay, Short stature, Hypoamylasemia, Increased serum bile acid concentration, Steatorrhea... ORPHA:811
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal stomach morphology, Intussusception, Bowel incontinence, Ab... ORPHA:512
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Volvulus, Intestinal malrotation, Anal atresia, Tracheo... ORPHA:210122
Syndromic Diarrhea
Bloody diarrhea, Abnormality of iron homeostasis, Villous atrophy, Intrauterine growth retardatio... ORPHA:84064
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Growth delay, Duodenal stenosis, Short stature, Anal atresia, Anal ste... OMIM:617063
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Intrauterine growth retardation, Gastrointestinal atresia, Intestinal malrotatio... ORPHA:436252
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia, Fat malabsorption ORPHA:30391
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Esophageal varix, Cholangiocarcinoma, Growth delay, Hepatoblastoma, Gastrointestina... ORPHA:731
Tarp Syndrome
Cleft palate, Intrauterine growth retardation, Tongue nodules, Glossoptosis, Abnormal duodenum mo... ORPHA:2886
Colon perforation, Vomiting, Colitis, Nausea, Peritonitis, Melena, Gastritis, Gastrointestinal he... ORPHA:73263
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Villous atrophy OMIM:606367
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Villous atrophy, Growth delay, Short stature, Esophageal carcinoma... ORPHA:391487
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Musculocontractural Ehlers-Danlos Syndrome
High palate, Cleft palate, Malrotation of small bowel, Constipation ORPHA:2953
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Matthew-Wood Syndrome
Intrauterine growth retardation, Duodenal stenosis ORPHA:2470
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Fanconi Anemia
Aganglionic megacolon, Cleft palate, High palate, Duodenal stenosis, Meckel diverticulum, Short s... ORPHA:84
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Meckel diverticulum, Duodenal atresia, Congenital shortened small intestine, Esopha... OMIM:265380
Villous atrophy, Vomiting, Rhizomelia, Bifid uvula, Diarrhea, Gastroesophageal reflux ORPHA:79328
Storm Syndrome
Fat malabsorption OMIM:185069
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypoalbuminemia, Villous atrophy, Elevated circulating C-reactive protein concent... OMIM:619381
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Fryns Syndrome
Aganglionic megacolon, Cleft palate, Duodenal atresia, Meckel diverticulum, Esophageal atresia, I... OMIM:229850
Mosaic Trisomy 16
Anteriorly placed anus, Meckel diverticulum, Intrauterine growth retardation, Abnormality of the ... ORPHA:1708
Fraser Syndrome 1
Abnormality of the anus, Cleft palate, Abnormality of the small intestine OMIM:219000
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation ORPHA:90349
Trisomy 8P
Malrotation of small bowel, Cleft palate, Bifid uvula, Constipation ORPHA:264450
Autosomal Dominant Cutis Laxa
Small bowel diverticula, Postnatal growth retardation, Intrauterine growth retardation, Vomiting ORPHA:90348
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Short stature OMIM:274000
Viss Syndrome
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Short st... OMIM:619472
Wolf-Hirschhorn Syndrome
Cleft palate, Intrauterine growth retardation, Severe postnatal growth retardation, Short stature... OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Cleft palate, Meckel diverticulum, Exaggerated median tongue furrow, Macroglossia, Hepatoblastoma... OMIM:312870
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Conjugated hyperbilirubinemia OMIM:619484


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 Slc51a

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 Slc51a.

No publications found that use IMPC mice or data for Slc51a.

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MGI Allele Allele Type Produced
Slc51atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc51atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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