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Gene: Acot6 MGI:1921287

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Gene Summary

Name:
acyl-CoA thioesterase 6
Synonyms:
4632408A20Rik

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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 blood uric acid level Acot6tm1a(KOMP)Wtsi HOM   Early adult 1.45×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Histopathology

Images

6 Images

View images
Legacy Phenotype Associated Images
Acot6tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Acot6tm1a(KOMP)Wtsi
HOM, Male, WTSI
Acot6tm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Acot6tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Acot6tm1a(KOMP)Wtsi
head, HOM, Female, WTSI

View all 70 images

Acot6tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Acot6tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Acot6tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Acot6 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 Acot6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Lesch-Nyhan Syndrome
Hyperuricemia ORPHA:510
Xanthinuria, Type Ii
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia OMIM:603592
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Cystinuria
Hyperuricemia ORPHA:214
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperuricemia, Hyperammonemia OMIM:246450
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411543
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Beta-Ketothiolase Deficiency
Hyperuricemia, Hyperammonemia ORPHA:134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Lesch-Nyhan Syndrome
Hyperuricemia OMIM:300322
3-Hydroxy-3-Methylglutaric Aciduria
Hyperuricemia, Hyperammonemia ORPHA:20
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Hypouricemia, Hypertaurinemia OMIM:615501
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Glycogen Storage Disease Ia
Hyperlipidemia, Hyperuricemia OMIM:232200
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Glycogen Storage Disease Ib
Hyperlipidemia, Hyperuricemia OMIM:232220
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Increased circulating inosine concen... OMIM:613179
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia OMIM:300661
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia ORPHA:79259
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Glycogen Storage Disease Ic
Hyperlipidemia, Hyperuricemia OMIM:232240
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemia ORPHA:93111
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia ORPHA:760
Cockayne Syndrome
Hyperuricemia ORPHA:191
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia OMIM:252150
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating C-reactive... ORPHA:97214

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 Acot6

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 Acot6.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Acot6tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Acot6tm1a(KOMP)Wtsi PMC6459510
Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen. Disease models & mechanisms (March 2014) Acot6tm1a(KOMP)Wtsi PMC4007403

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
Acot6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Acot6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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