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
Hyperuricemia, Abnormality of amino acid metabolism ORPHA:214
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Decreased circulating vit... ORPHA:309854
Tyrosinemia Type 2
Tremor, Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... 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, Ataxia, Decreased circulating vitamin E concentration, Impaired propriocept... OMIM:277460
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation, Decreased circulating ceruloplasmin concentration, Elevated circulating c... OMIM:616828
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Abnormal metabolism, Action tremor ORPHA:77296
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation, Decreased circulating ceruloplasmin concentration, Decreased circulating ... OMIM:617395
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
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
Chylomicron Retention Disease
Hypertriglyceridemia, Impaired proprioception, Abnormality of vitamin metabolism, Hypocholesterol... ORPHA:71
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating total IgM, Abnormality of vitamin met... ORPHA:90362
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia ORPHA:309246
Slc35A2-Cdg
Abnormal glycosylation, Decreased galactosylation of N-linked protein glycosylation, Increased ci... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Fanconi-Bickel Syndrome
Hypouricemia, Impairment of galactose metabolism, Hypophosphatemia, Hypokalemia, Hypergalactosemi... OMIM:227810
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia OMIM:272750
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism, Hyperbilirubinemia ORPHA:79302
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dysmetria, Dystonia, L... ORPHA:845
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
Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response OMIM:617864
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation 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
Exaggerated startle response, Opisthotonus OMIM:184850
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Hyperammonemia OMIM:616457
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
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
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
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fructose intolerance OMIM:229600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Low levels of vitamin D, Decreased serum iron, Dystonia 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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