Gene Summary

Name:
retinol saturase (all trans retinol 13,14 reductase)
Synonyms:
0610039N19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Select physiological systems to view:
Viewing: all phenotypes
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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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote 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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
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

142 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Retsat 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 Retsat by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D OMIM:619481
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Low levels of vitamin A OMIM:277350
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormality of vitamin A metabolism, Abnormality of vitamin E metabolism ORPHA:209902
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:309031
Maternal Uniparental Disomy Of Chromosome 4
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin K ORPHA:96180
Formiminoglutamic Aciduria
Abnormality of folate metabolism, Increased blood folate concentration ORPHA:51208
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Imerslund-Grasbeck Syndrome 1
Vitamin B12 deficiency, Malabsorption of Vitamin B12 OMIM:261100
Vitamin D-Dependent Rickets, Type 3
Decreased circulating calcifediol concentration, Low serum calcitriol OMIM:619073
Abetalipoproteinemia
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D ORPHA:14
Shwachman-Diamond Syndrome
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:811
Primary Sclerosing Cholangitis
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:171
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin A, Inguinal hernia, Low levels of vitamin D OMIM:613658
Autosomal Recessive Polycystic Kidney Disease
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:731
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Inguinal hernia, Decreased methylcobalamin OMIM:614857
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Epidermal Nevus Syndrome
Lipoma, Low levels of vitamin D ORPHA:35125
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12 OMIM:261000
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Knee flexion contracture, Low levels of vitamin K OMIM:118650
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Primary Intestinal Lymphangiectasia
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:90362
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol ORPHA:2788
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level, Inguinal hernia, Flexion contracture ORPHA:544503
Deafness-Hypogonadism Syndrome
Low levels of vitamin B1 ORPHA:90646
Celiac Disease, Susceptibility To, 1
Reduced blood folate concentration, Low levels of vitamin K, Low levels of vitamin D, Enamel hypo... OMIM:212750
Classic Galactosemia
Low levels of vitamin D ORPHA:79239
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methylcobalamin OMIM:250940
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methylcobalamin OMIM:236270
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of vitamin D metabolism, Low serum calcitriol, Enthesitis ORPHA:289176
Vitamin D-Dependent Rickets, Type 2A
High serum calcitriol, Enamel hypoplasia OMIM:277440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
High serum calcitriol OMIM:600785
Ataxia With Vitamin E Deficiency
Low levels of vitamin E OMIM:277460
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Vitamin B12 deficiency, Lipodystrophy OMIM:618922
Lead Poisoning
Abnormality of vitamin D metabolism, Low levels of vitamin D ORPHA:330015
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D ORPHA:89937
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:277410
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Atrophic scars, Joint contractures involving the joints of the... ORPHA:79408
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Low serum calcitriol ORPHA:289157
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
High serum calcitriol OMIM:241530
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism ORPHA:541423
Hereditary Hypophosphatemic Rickets With Hypercalciuria
High serum calcitriol ORPHA:157215
Imerslund-Gräsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased methylcobalamin OMIM:617780
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol OMIM:617994
Congenital Disorder Of Glycosylation, Type Iit
Abnormal protein O-linked glycosylation, Low levels of vitamin D OMIM:618885
Congenital Bile Acid Synthesis Defect Type 2
Low levels of vitamin E ORPHA:79303
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Low levels of vitamin D, Flexion contracture ORPHA:89842
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Hypophosphatemic Rickets, X-Linked Recessive
High serum calcitriol OMIM:300554
African Iron Overload
Low levels of vitamin C ORPHA:139507
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:277380
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Dent Disease 1
High serum calcitriol OMIM:300009
Methylmalonic Acidemia With Homocystinuria Type Cblf
Decreased adenosylcobalamin, Vitamin B12 deficiency, Decreased methylcobalamin ORPHA:79284
Hypophosphatemic Rickets
Odontodysplasia, Low serum calcitriol, Low levels of vitamin D, Enthesitis ORPHA:437
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Reduced blood folate concentration OMIM:301056
Mucopolysaccharidosis Type 3
Low levels of vitamin D, Umbilical hernia, Flexion contracture, Inguinal hernia ORPHA:581
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency OMIM:601775
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism ORPHA:411629
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Methylmalonic Aciduria, Cblb Type
Decreased adenosylcobalamin, Methylmalonic acidemia OMIM:251110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of amino acid metabolism, Low levels of vitamin E ORPHA:309854
Congenital Erythropoietic Porphyria
Increased connective tissue, Scarring, Low levels of vitamin D, Scarring alopecia of scalp ORPHA:79277
Methylmalonic Aciduria, Cbla Type
Decreased adenosylcobalamin, Methylmalonic acidemia OMIM:251100
Autosomal Dominant Cutis Laxa
Hernia, Low levels of vitamin D, Inguinal hernia ORPHA:90348
Oculocerebrorenal Syndrome Of Lowe
Abnormal dental enamel morphology, Inguinal hernia, Low levels of vitamin D, Atypical scarring of... ORPHA:534
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:277400
Dent Disease
High serum calcitriol ORPHA:1652
Autoimmune Lymphoproliferative Syndrome
Panniculitis, Abnormal vitamin B12 level ORPHA:3261
Multiple Myeloma
Abnormality of vitamin B12 metabolism ORPHA:29073
Juvenile Nephropathic Cystinosis
Low levels of vitamin D ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D ORPHA:79259
Adrenomyeloneuropathy
Vitamin B12 deficiency ORPHA:139399
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Low levels of vitamin D ORPHA:438213
Pearson Syndrome
Malabsorption of Vitamin B12 ORPHA:699
Degcags Syndrome
Hiatus hernia, Reduced blood folate concentration OMIM:619488
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Acute Transverse Myelitis
Vitamin B12 deficiency ORPHA:139417
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Reduced blood folate concentration OMIM:219721

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 Retsat

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 Retsat.

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

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MGI Allele Allele Type Produced
Retsattm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Retsattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Retsattm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Retsattm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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