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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:
7a5ex,  4933425M12Rik,  2900022L22Rik,  MGC7254,  mLip1

Order Alleles

IMPC Data Collections

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

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.

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
Cerebral atrophy, Hypertrophic cardiomyopathy, Microcephaly, Cerebral edema, Growth delay OMIM:614462

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Spina bifida, H... ORPHA:1931
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hypoplasia of the ... OMIM:611134
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Intrauterine g... ORPHA:1908
Joubert Syndrome 15
Exencephaly OMIM:614464
Subependymal Nodular Heterotopia
Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Partial agen... ORPHA:101030
Acalvaria
Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Nevus Comedonicus Syndrome
Spina bifida occulta, Microcephaly, Spina bifida ORPHA:64754
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Schisis Association
Microcephaly, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Humero-Radial Synostosis
Microcephaly, Meningocele ORPHA:3265
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:603194
Alg3-Cdg
Hypoplasia of the pons, Cardiomyopathy, Hypoplasia of the corpus callosum, Cerebral white matter ... ORPHA:79321
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Cerebral calcification, Poren... ORPHA:1393
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Spina bifida, Macrocephaly OMIM:620439
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Hydrocephalus, Abnorm... ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Macrocephaly, Short stature, Spi... ORPHA:2311
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly ORPHA:99742
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Microcephaly, Intrauterine growth retardation, Spina bifida ORPHA:1327
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:588
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... OMIM:614424
Fliedner-Zweier Syndrome
Hypoplasia of the corpus callosum, Ventricular septal defect, Microcephaly, Bicuspid aortic valve... OMIM:620511
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Cerebellar hypoplasia, Microcephaly, Spina bifida, Lissencephaly OMIM:616038
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelastosis, Ven... ORPHA:99776
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Increased head circumfer... ORPHA:268810
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Dextrocardia, Spina bifida occulta ORPHA:2437
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida, Macrocephaly ORPHA:3219
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Occipital encephalocele, Open ... ORPHA:397715
Neurocutaneous Melanocytosis
Meningocele, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation ORPHA:2481
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele, Biparietal narrowing ORPHA:2031
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Encephalocele, Agenesis of corpus callosum ORPHA:1827
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Iniencephaly
Lissencephaly, Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydr... ORPHA:63259
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Cerebral calcificati... ORPHA:2671
Trisomy 18
Growth delay, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Ventric... ORPHA:3380
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ... ORPHA:2839
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Microcephaly, Spina bifida, Short ... ORPHA:991
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Lathosterolosis
Intrauterine growth retardation, Cerebral calcification, Microcephaly, Meningocele, Biparietal na... ORPHA:46059
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Periventricular leukomalacia, Hypoplasia of t... ORPHA:508498
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Short stature,... OMIM:130720
Curry-Jones Syndrome
Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Lipomyelomeningocele, Occipital ... OMIM:601707
Neu-Laxova Syndrome 1
Hydranencephaly, Stillbirth, Small placenta, Intrauterine growth retardation, Short umbilical cor... OMIM:256520
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Diffuse cerebral atrophy, Microcephaly, Spina bifida, Hydrocephalus OMIM:613776
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Occipital meningocele,... OMIM:616546
Aicardi Syndrome
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Postnatal growth reta... OMIM:304050
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Cerebral atrophy, Pachygyria, Intrauterine growth ... ORPHA:2308
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum... OMIM:277170
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Agenesis of c... OMIM:610828
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Calcification of falx cerebri, Cardiac fibroma, Hydrocephalus, Spina bifida,... OMIM:109400
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hypoplasia of the corpus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hypoplasia of the corpus... ORPHA:363958
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... ORPHA:567
Hallermann-Streiff Syndrome
Microcephaly, Spina bifida, Proportionate short stature OMIM:234100
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Umbilical hernia ORPHA:2092
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Hypertrophic cardiomyopathy, Microcephaly, Cerebral edema, Growth delay OMIM:614462
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Postnatal growth retardation, Mitral valve prolapse, Agenesis of corpus c... OMIM:180849
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular sep... OMIM:274000
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Partial agenesis of the corpus callosum, Thin corpus callosum, Spi... OMIM:619480
Semilobar Holoprosencephaly
Abnormal heart morphology, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly... ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly... ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly... ORPHA:93924
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Macrocephaly, Short stature, Aqueductal stenosis OMIM:162200
Knobloch Syndrome 1
Occipital encephalocele, Cerebral atrophy, Polymicrogyria, Absent septum pellucidum, Microcephaly... OMIM:267750
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Holoprosencephaly, Microcephaly, Hydrocepha... OMIM:610829
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Cutis Laxa, Autosomal Recessive, Type Ib
Microcephaly, Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Femoral-Facial Syndrome
Encephalocele, Ventricular septal defect, Agenesis of corpus callosum, Truncus arteriosus, Spina ... OMIM:134780
Arima Syndrome
Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Agenesis of cerebellar v... OMIM:243910
Exstrophy-Epispadias Complex
Hydrocephalus, Microcephaly, Spina bifida, Abnormal heart morphology ORPHA:322
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Otopalatodigital Syndrome, Type Ii
Stillbirth, Umbilical hernia, Postnatal growth retardation, Spina bifida, Hydrocephalus, Atrial s... OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820

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
Liastm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Liastm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Liasem1(IMPC)Ccpcz Indel Mice

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