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Gene: Slc51a MGI:2146634

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol co... OMIM:246700
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Vomiting,... OMIM:615863
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... OMIM:616834
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Chylomicron Retention Disease
Hypertriglyceridemia, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption, Hypochole... ORPHA:71
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Acholic stools, Hypocholesterolemia, Fat ma... OMIM:607765
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Potocki-Lupski Syndrome
Short stature, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Hypocholesterolemia OMIM:610883
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c... OMIM:618156
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Postnata... ORPHA:96180
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology, Hypocalcemia, Malabsorption ORPHA:100025
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hyperammonemia, Growth delay, Chronic constipation, Hypercholesterolemia, Increase... OMIM:620211
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Diarrhea, Hypertriglyceridemia, Esophageal varix ORPHA:75234
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Vomiting, Intraute... ORPHA:1201
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Malabsorption, Diarrhea, Villous atrophy OMIM:600955
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Glycogen Storage Disease Ixa1
Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Hypoalbuminemia, Steatorrhea OMIM:602579
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di... ORPHA:103910
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... OMIM:175500
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Diarrhea, Hypoalbuminemia, Vomiting, Steatorrhea, Hypocholesterolemia OMIM:212065
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Chronic diarrhea, Decreased LDL cholesterol concentratio... ORPHA:14
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Hypophosphatemia, Protein-losing enteropathy, H... ORPHA:398063
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Velopharyngeal insufficiency, Submucous cleft hard p... OMIM:223370
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Kaufman Oculocerebrofacial Syndrome
Short stature, Intestinal malrotation, Constipation, High palate, Hypocholesterolemia OMIM:244450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... ORPHA:79327
Alg6-Cdg
Macroglossia, Protein-losing enteropathy, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Alg12-Cdg
Hyponatremia, Intestinal malrotation, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolem... ORPHA:79324
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Elevated circulating C-reactive protein concentration, Increased ... OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Conjugated hyperbilirubinemia, Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Glycogen Storage Disease Ixc
Postnatal growth retardation, Hypertriglyceridemia, Growth delay OMIM:613027
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Vomiting ORPHA:79319
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hype... OMIM:238600
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Hematochezia, Hypoalbuminemia, Protein-lo... OMIM:618183
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Elevated circulating creatinine concentration, Protein-losing enteropathy, Hypoalbumine... OMIM:608104
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Trichohepatoenteric Syndrome 2
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis, Intr... OMIM:614602
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Fat malabsorption, Short stature, Diarrhea OMIM:211600
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, High, narrow palate, Rectal prolapse, Adenomatous col... ORPHA:79076
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Short stature, Pyloric stenosis, Gastrointestinal ... OMIM:270400
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Megaduodenum OMIM:611376
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intrau... OMIM:601346
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia OMIM:200100
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Immunodeficiency 31C
Villous atrophy, Short stature, Diarrhea, Gastrointestinal eosinophilia, Growth delay, Protein-lo... OMIM:614162
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... OMIM:155310
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Decreased serum bile acid concentration, Fat malabsorption, Hyperbilirubinemia OMIM:214950
Oculoskeletodental Syndrome
Short stature, Hypercalcemia, Macroglossia, Protein-losing enteropathy, Hypocalcemia OMIM:618440
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hyp... ORPHA:2929
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Short stature, Intrauterine growth retardation OMIM:616395
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... OMIM:115470
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Hy... OMIM:235510
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Vil... ORPHA:567983
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, High palate, Hypocalcemia, Protein-losing enteropathy, Hypoproteinemia ORPHA:1655
Immunodeficiency 85 And Autoimmunity
Growth delay, Villous atrophy, Chronic diarrhea, Vomiting OMIM:619510
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cleft palate, High palate, Hypocalcemia, Protein-losing enteropathy, Hypoproteinemia OMIM:235255
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Villous atrophy, Elevated ci... OMIM:619573
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hyperbilirubinemia ORPHA:79302
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... OMIM:619377
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Protracted diarrhea, Malabsorption OMIM:209920
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Chronic diarrhea, Vomiting, Hyperbilirubinemia, Steatorrhea, Exoc... OMIM:557000
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Intrauterine growth retardation, Meckel ... OMIM:311900
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Short stature, Hypoamylasemia, Growth delay, Increased... ORPHA:811
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma, Acholic stools, Fat malabsorption ORPHA:30391
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m... ORPHA:512
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Diarrhea, Peritonitis, Enterocolitis, Hemato... ORPHA:73263
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Esophageal varix, Growth delay, Pr... ORPHA:731
Tarp Syndrome
Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, Tongue... ORPHA:2886
Musculocontractural Ehlers-Danlos Syndrome
Constipation, Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Bloody diarrhea, Colitis, Abnormality of iron homeosta... ORPHA:84064
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Liver Disease, Severe Congenital
Hyponatremia, Chronic gastritis, Elevated circulating alpha-fetoprotein concentration, Increased ... OMIM:619991
Fanconi Anemia
Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula,... ORPHA:84
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Constipation, Abnormal duodenum... OMIM:601776
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum, Intrauter... ORPHA:1708
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration... OMIM:619381
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Trisomy 8P
Malrotation of small bowel, Constipation, Bifid uvula, Cleft palate ORPHA:264450
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula ORPHA:90349
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Intrauterine growth retardation, Vomiting, Small bowel diverticula ORPHA:90348
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Short stature, Cleft palate OMIM:274000
Wolf-Hirschhorn Syndrome
Short stature, Malrotation of small bowel, Cleft palate, Growth delay, Severe postnatal growth re... OMIM:194190
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss... OMIM:312870
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Chronic diarrhea OMIM:619484

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 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.

Order Mouse and ES Cells

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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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