Gene: Lias MGI:1934604

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lipoic acid synthetase
Synonyms:
MGC7254,  mLip1,  4933425M12Rik,  2900022L22Rik,  7a5ex

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 Lias 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.

The table below shows human diseases associated to Lias by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Growth delay, Cerebral atrophy, Hypertrophic cardiomyopathy OMIM:614462

The table below shows human diseases predicted to be associated to Lias by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Macrocephaly, Hy... ORPHA:1931
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1908
Schisis Association
Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Amish Lethal Microcephaly
Spina bifida, Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Meningocele, Hydranencephaly, Cerebr... ORPHA:1393
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Microcephaly, Spina bifida, Short stature ORPHA:1327
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus OMIM:207950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Polymicrogyria, Abnormal cortical gyration, Macrogyria, Lissencephaly ORPHA:2211
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Anencephaly, Intrauterine growth retardation OMIM:603194
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Growth delay, Cerebral atrophy, Hypertrophic cardiomyopathy OMIM:614462
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Biparietal narrowing, Ventricular septal defect, Abnormal hea... ORPHA:99776
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Cerebellar hypoplasia, Polymicrogyria, Abnorm... ORPHA:2671
Fountain Syndrome
Macrocephaly, Spina bifida, Short stature, Spina bifida occulta ORPHA:3219
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Postnatal growth retardation OMIM:600122
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Iniencephaly
Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Dandy-Walker malform... ORPHA:63259
Trisomy 18
Spina bifida, Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal... ORPHA:3380
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Short stature, Neonatal shor... ORPHA:2839
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular septal defect, ... OMIM:256520
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Pagod Syndrome
Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart, Short stature, Microce... ORPHA:991
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Increased head circumference, Lipomyelome... ORPHA:268810
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Cerebellar vermis hypoplasia, Postnatal growth... OMIM:304050
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Hypoplasia of the corpus callosum, P... ORPHA:508498
Jacobsen Syndrome
Spina bifida, Macrocephaly, Pachygyria, Ventricular septal defect, Growth delay, Cerebral atrophy... ORPHA:2308
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Calcification of falx cerebri, Macrocephaly, ... OMIM:109400
Alobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal heart morphology, Growth delay, Abnormal hypothalamus... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal heart morphology, Growth delay, Abnormal hypothalamus... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal heart morphology, Growth delay, Abnormal hypothalamus... ORPHA:93924
Semilobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal heart morphology, Growth delay, Abnormal hypothalamus... ORPHA:220386
Hallermann-Streiff Syndrome
Microcephaly, Spina bifida, Proportionate short stature OMIM:234100
Thrombocytopenia-Absent Radius Syndrome
Cavum septum pellucidum, Spina bifida, Atrial septal defect, Ventricular septal defect, Cerebella... OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Hydrocephalus, Abnormal heart morphology, Ventricular septal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Hydrocephalus, Abnormal heart morphology, Ventricular septal ... ORPHA:363958
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Fanconi Anemia
Spina bifida, Atrial septal defect, Growth delay, Abnormal aortic valve morphology, Umbilical her... ORPHA:84
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Spina bifida, Umbilical hernia, Ventricular septal defect ORPHA:2092
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Short stature, Macrocephaly, Hydrocephalus OMIM:162200
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Exstrophy-Epispadias Complex
Microcephaly, Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Schinzel-Giedion Syndrome
Abnormal heart morphology, Hypoplasia of the corpus callosum, Umbilical hernia, Neural tube defec... ORPHA:798
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Postnatal growth retardation, Patent urachus, Intrauteri... OMIM:192350
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278

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 Lias

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 Lias.

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

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MGI Allele Allele Type Produced
Liastm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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