Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
acyl-CoA synthetase long-chain family member 6
Synonyms:
Lacsl,  Facl6,  A330035H04Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Acsl6 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 Acsl6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystinuria
Abnormality of amino acid metabolism, Hyperuricemia ORPHA:214
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Truncal ataxia, Dysdiadochokinesis, Abnormal blood inorgan... ORPHA:309854
Tyrosinemia Type 2
Tremor, Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Congenital Disorder Of Glycosylation, Type Iip
Abnormal protein O-linked glycosylation, Decreased circulating ceruloplasmin concentration, Incre... OMIM:616829
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Abnormality of amino acid metabolism ORPHA:220295
Galactose Mutarotase Deficiency
Impairment of galactose metabolism, Hypergalactosemia ORPHA:570422
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg si... OMIM:277460
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Abnormality of amino acid metabolism ORPHA:394
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Abnormal metabolism, Hyperuricemia ORPHA:77296
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation, Decreased circulating ceruloplasmin concentration, Decreased circulating ... OMIM:617395
Galactose Epimerase Deficiency
Impairment of galactose metabolism ORPHA:79238
Aspartylglucosaminuria
Abnormality of amino acid metabolism ORPHA:93
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal metabolism, Abnormal circulating fatty-ac... ORPHA:567983
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Hypocalcemia, Hypoproteinemia, Decreased circulating antibody le... ORPHA:90362
Gm2 Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Slc35A2-Cdg
Decreased galactosylation of N-linked protein glycosylation, Abnormal glycosylation, Decreased si... ORPHA:356961
Chylomicron Retention Disease
Impaired proprioception, Hypocholesterolemia, Abnormality of vitamin metabolism ORPHA:71
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Combined Oxidative Phosphorylation Deficiency 58
Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hyperprolinemia OMIM:620451
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Abnormality of vitamin metabolism ORPHA:79302
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Ataxia, Exaggerated startle response OMIM:616881
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response OMIM:272750
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Secondary Short Bowel Syndrome
Abnormal blood ion concentration, Low plasma citrulline, Abnormality of vitamin metabolism ORPHA:95427
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response OMIM:617864
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Hyperammonemia OMIM:616457
Sandhoff Disease
Ataxia, Impaired temperature sensation, Exaggerated startle response OMIM:268800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Dystonia, Exaggerated startle response OMIM:620423
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Fructose Intolerance, Hereditary
Bicarbonaturia, Fructose intolerance, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating vitamin D concentration, Dystonia, Decreased circulating iron concentration... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Acsl6

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 Acsl6.

No publications found that use IMPC mice or data for Acsl6.

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
Acsl6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acsl6tm41350(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acsl6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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