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Gene: Slc36a1 MGI:2445299

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Gene Summary

Name:
solute carrier family 36 (proton/amino acid symporter), member 1
Synonyms:
5830411H19Rik,  Pat1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Slc36a1em1(IMPC)Tcp HOM E9.5 0.00
embryonic growth retardation Slc36a1em1(IMPC)Tcp HOM E12.5 0.00
embryonic growth retardation Slc36a1em1(IMPC)Tcp HOM E9.5 0.00
enlarged urinary bladder Slc36a1em1(IMPC)Tcp HET Early adult 0.00
abnormal stomach morphology Slc36a1em1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Slc36a1em1(IMPC)Tcp HET Early adult 0.00
anophthalmia Slc36a1em1(IMPC)Tcp HOM E12.5 0.00
abnormal embryo size Slc36a1em1(IMPC)Tcp HOM E12.5 0.00
abnormal skin morphology Slc36a1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Slc36a1em1(IMPC)Tcp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

103 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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Eye Morphology

Images Slit Lamp

96 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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Gross Morphology Embryo E12.5

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Human diseases caused by Slc36a1 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 Slc36a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia OMIM:613885
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Trisomy 13
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Clinodactyly of the 5th finger, Vesicoureteral reflux, Nephrolithiasis, Pyloric sten... OMIM:617219
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Anophthalmia OMIM:147250
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... ORPHA:2538
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Radial deviation of finger, Clinodactyly OMIM:188025
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Short 5th finger, Pyloric stenosis, Congenital hip dislocation OMIM:133705
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Camptodac... OMIM:614262
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Short stature, Severe short stature, Intrauterine growth ... OMIM:601186
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Vacterl With Hydrocephalus
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida ORPHA:3412
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Systemic Sclerosis
Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Oste... ORPHA:90291
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Clubbing, Splenomegaly OMIM:620367
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia OMIM:615877
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Syndactyly OMIM:226700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Hepatomegaly, Abnormal urinary color ORPHA:234
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux ORPHA:98892
Cerebrooculonasal Syndrome
Postnatal growth retardation, Optic nerve hypoplasia, Encephalocele, Anophthalmia OMIM:605627
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism ORPHA:2162
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Esophageal varix, Hepatocellular carcinoma, Splenomegaly ORPHA:64743
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
14Q22Q23 Microdeletion Syndrome
Short stature, Optic nerve aplasia, Anophthalmia ORPHA:264200
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, P... OMIM:256300
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Ulnar-Mammary Syndrome
Abnormal metacarpal morphology, Hypoplasia of penis, Abnormal finger morphology, Ectopic anus, Po... ORPHA:3138
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Abnor... ORPHA:141127
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Anophthalmia, Short stature, Umbil... ORPHA:138
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Thin ribs, Tibial bowing, Bowing of the long bones, Nephrolithiasis,... OMIM:613848
Reynolds Syndrome
Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Dysphagia, Xerostomia ORPHA:779
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Midgut malrotation, Congenital hip dislocation,... OMIM:263750
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele OMIM:610829
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Dislocated radial head, Malrotation of colon, Hypopl... OMIM:122470
Metachromatic Leukodystrophy
Urinary incontinence, Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach... ORPHA:512
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Microphthalmia, Syndromic 2
Short stature, Microphthalmia, Anophthalmia, Umbilical hernia OMIM:300166
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Short stature, Um... OMIM:305600
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... OMIM:181450
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina... ORPHA:79403
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Microphthalmia With Limb Anomalies
Short stature, Microphthalmia, True anophthalmia ORPHA:1106
Esophageal Atresia
Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal... ORPHA:1199
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Hardikar Syndrome
Hematemesis, Gastric varix, Hepatomegaly, Hydroureter, Cleft soft palate, Bilateral cleft palate,... OMIM:301068
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt... OMIM:113620
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Anophthalmia, Unilateral microphth... OMIM:214800
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Bifid sternum, Hyperextensibility of the finger joints, Narrow il... OMIM:303600
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Vesicoureteral reflux, Urethral diverticulum, Pyloric stenosis, Sma... ORPHA:90349
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the... ORPHA:158684
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Viss Syndrome
Rocker bottom foot, Intestinal malrotation, Arachnodactyly, Malposition of the stomach, Bifid uvu... OMIM:619472
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia OMIM:164210
Williams Syndrome
Hypoplasia of penis, Tracheoesophageal fistula, Nephrocalcinosis, Multiple renal cysts, Urethral ... ORPHA:904
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800

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 Slc36a1

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 Slc36a1.

No publications found that use IMPC mice or data for Slc36a1.

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
Slc36a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc36a1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc36a1em1(IMPC)Tcp Exon Deletion Mice

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