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Gene: Slc6a14 MGI:1890216

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Gene Summary

Name:
solute carrier family 6 (neurotransmitter transporter), member 14
Synonyms:
ATB0plus,  CATB0plus,  9030613J17Rik,  1110007A17Rik

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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
increased mean corpuscular hemoglobin Slc6a14tm1b(KOMP)Wtsi HOM Early adult 1.48×10-05
abnormal epididymis morphology Slc6a14tm1b(KOMP)Wtsi HEM Early adult 0.00
enlarged epididymis Slc6a14tm1b(KOMP)Wtsi HEM Early adult 0.00
increased mean corpuscular hemoglobin concentration Slc6a14tm1b(KOMP)Wtsi HOM Early adult 8.59×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Colon  Section images hemizygote 100% (1 of 1)
Epididymis  Section images hemizygote 100% (1 of 1)
Harderian gland  Section images hemizygote 100% (1 of 1)
Penis  Section images hemizygote 100% (1 of 1)
Skin  Section images hemizygote 100% (1 of 1)
Testis  Section images hemizygote 100% (1 of 1)
Tongue  Section images hemizygote 100% (1 of 1)
Vas deferens  Section images hemizygote 100% (1 of 1)
Adrenal gland N/A hemizygote 0.0% (0 of 1)
Aorta N/A hemizygote 0.0% (0 of 1)
Blood N/A hemizygote Not available
Bone marrow N/A hemizygote 0.0% (0 of 1)
Brain N/A hemizygote 0.0% (0 of 1)
Brainstem N/A hemizygote Not available
Brown adipose tissue N/A hemizygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote Not available
Cecum N/A hemizygote 0.0% (0 of 1)
Cerebellum N/A hemizygote 0.0% (0 of 1)
Cerebral cortex N/A hemizygote Not available
Chest bone N/A hemizygote Not available
Diaphragm N/A hemizygote 0.0% (0 of 1)
Duodenum N/A hemizygote 0.0% (0 of 1)
Esophagus N/A hemizygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Gall bladder N/A hemizygote Not available
Gonadal fat pad N/A hemizygote 0.0% (0 of 1)
Heart N/A hemizygote Not available
Hindlimb N/A hemizygote Not available
Hippocampus N/A hemizygote Not available
Hypothalamus N/A hemizygote Not available
Ileum N/A hemizygote 0.0% (0 of 1)
Jejunum N/A hemizygote Not available
Kidney N/A hemizygote 0.0% (0 of 1)
Large intestine N/A hemizygote 100% (1 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote Not available
Lung N/A hemizygote 0.0% (0 of 1)
Lymph node N/A hemizygote Not available
Mammary gland N/A hemizygote Not available
Mesenteric adipose tissue N/A hemizygote 0.0% (0 of 1)
Mesenteric lymph node N/A hemizygote Not available
Midbrain N/A hemizygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote 0.0% (0 of 1)
Ovary N/A hemizygote Not available
Oviduct N/A hemizygote Not available
Pancreas N/A hemizygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote 0.0% (0 of 1)
Parotid gland N/A hemizygote 0.0% (0 of 1)
Peripheral nervous system N/A hemizygote Not available
Peyer's patch N/A hemizygote Not available
Pituitary gland N/A hemizygote 0.0% (0 of 1)
Prostate gland N/A hemizygote Not available
Quadriceps N/A hemizygote 0.0% (0 of 1)
Sciatic nerve N/A hemizygote 0.0% (0 of 1)
Skeletal muscle N/A hemizygote Not available
Small intestine N/A hemizygote 0.0% (0 of 1)
Spinal cord N/A hemizygote 0.0% (0 of 1)
Spleen N/A hemizygote 0.0% (0 of 1)
Stomach pyloric region N/A hemizygote Not available
Stomach N/A hemizygote 0.0% (0 of 1)
Striatum N/A hemizygote Not available
Sublingual gland N/A hemizygote 0.0% (0 of 1)
Submandibular gland N/A hemizygote 0.0% (0 of 1)
Thymus N/A hemizygote 0.0% (0 of 1)
Thyroid gland N/A hemizygote 0.0% (0 of 1)
Trachea N/A hemizygote 0.0% (0 of 1)
Trigeminal V nerve N/A hemizygote 0.0% (0 of 1)
Urinary bladder N/A hemizygote 0.0% (0 of 1)
Uterus N/A hemizygote Not available
Vagina N/A hemizygote Not available
Vascular system N/A hemizygote Not available
Vesicular gland N/A hemizygote 0.0% (0 of 1)
White adipose tissue N/A hemizygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

20 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Human diseases caused by Slc6a14 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 Slc6a14 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Fibrosis
Absent vas deferens ORPHA:586

The table below shows human diseases predicted to be associated to Slc6a14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Cystic Fibrosis
Absent vas deferens ORPHA:586

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 Slc6a14

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 Slc6a14.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion. eLife (July 2018) Slc6a14tm1a(KOMP)Wtsi PMC6054531
SLC6A14 Is a Genetic Modifier of Cystic Fibrosis That Regulates Pseudomonas aeruginosa Attachment to Human Bronchial Epithelial Cells. mBio (December 2017) Slc6a14tm1d(KOMP)Wtsi PMC5736915

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
Slc6a14tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc6a14tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Slc6a14tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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