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
Tyrosinemia Type 2
Tremor, Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... ORPHA:309854
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Abnormal protein N-linked glycosylation, Decreased circu... OMIM:616829
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Abnormality of amino acid metabolism ORPHA:220295
Bile Acid Synthesis Defect, Congenital, 6
Dysmetria, Ataxia, Hypolipidemia, Low levels of vitamin D OMIM:617308
Galactose Mutarotase Deficiency
Hypergalactosemia, Impairment of galactose metabolism ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation, Increased LDL cholesterol concentration, Elevated circulating creatine ki... OMIM:616828
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Abnormal glycosylation OMIM:611588
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Abnormal metabolism, Action tremor, Hyperuricemia ORPHA:77296
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Low levels of vitamin E, Hypercholesterolemia, Ataxia, H... OMIM:277460
Galactose Epimerase Deficiency
Impairment of galactose metabolism ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Aspartylglucosaminuria
Abnormality of amino acid metabolism ORPHA:93
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Abnormal metabolism, Conjugated hyperbilirubinemia... ORPHA:567983
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Abnormality of vitamin metabolism, Decreased circulating IgA le... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Chylomicron Retention Disease
Hypocholesterolemia, Impaired proprioception, Abnormality of vitamin metabolism ORPHA:71
Fanconi-Bickel Syndrome
Hypouricemia, Impairment of galactose metabolism, Hypophosphatemia, Hypokalemia OMIM:227810
Slc35A2-Cdg
Abnormal glycosylation, Decreased sialylation of O-linked protein glycosylation, Increased circul... ORPHA:356961
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Hyperammonemia OMIM:616457
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism, Hyperbilirubinemia ORPHA:79302
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response ORPHA:309246
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism, Low plasma citrulline, Abnormal blood ion concentration ORPHA:95427
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response OMIM:272750
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Limb tremor, Exaggerated startle response, Choreoathetosis OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia, Galactose intolerance ORPHA:2088
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Tay-Sachs Disease
Tremor, Increased serum beta-hexosaminidase, Dysmetria, Exaggerated startle response ORPHA:845
Sandhoff Disease
Ataxia, Impaired temperature sensation, Exaggerated startle response OMIM:268800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Exaggerated startle response ORPHA:438216
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Fructose intolerance, Bicar... OMIM:229600
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Decreased serum zinc, Low levels of vitamin D, Abnormal circul... ORPHA:79408
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Low levels of vitamin D, Decreased serum iron ORPHA:438213
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.

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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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