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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
Microcephaly, Cerebral atrophy, Growth delay, Hypertrophic cardiomyopathy, Cerebral edema 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
Neural tube defect, Type II lissencephaly OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... OMIM:611134
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hy... ORPHA:1908
Joubert Syndrome 15
Exencephaly OMIM:614464
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Microcephaly ORPHA:64754
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Microcephaly ORPHA:63862
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... ORPHA:79321
Cerebrocostomandibular Syndrome
Cerebral calcification, Short stature, Ventricular septal defect, Spina bifida, Microcephaly, Mye... ORPHA:1393
Triploidy
Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Abnormal cardiac septum mo... ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Microcephaly, Meningocele, Anomalous pulmonary venous return, Macrocephaly, Umbili... ORPHA:2311
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida, Microcephaly ORPHA:1327
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ventricular septal de... OMIM:614424
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... ORPHA:1120
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc... ORPHA:268810
Neu-Laxova Syndrome 2
Spina bifida, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Intrauterine growth retardation OMIM:616038
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Microcephaly, Abnormal heart valve morphol... ORPHA:99776
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida, Macrocephaly ORPHA:3219
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation ORPHA:2481
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature, Biparietal narrowing ORPHA:2031
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Short stature, Absent septum pellucidum, R... ORPHA:397715
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Neu-Laxova Syndrome
Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro... ORPHA:2671
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb ORPHA:1827
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Trisomy 18
Short stature, Ventricular septal defect, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypopl... ORPHA:3380
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Microcephaly, Situs inversus totalis, Meningocele, Hy... ORPHA:991
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Lathosterolosis
Cerebral calcification, Microcephaly, Meningocele, Biparietal narrowing, Intrauterine growth reta... ORPHA:46059
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:601707
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent foramen ovale, Stillbirth, Lissencephaly, Short u... OMIM:256520
Lateral Meningocele Syndrome
Short stature, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningocele, Umbi... OMIM:130720
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Spina bifida, Microcephaly, Bicuspid aortic valve, Truncus... ORPHA:508498
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Umbilical hernia OMIM:613776
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... OMIM:616546
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Postnatal growth retardation, Partial a... OMIM:304050
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Jacobsen Syndrome
Short stature, Ventricular septal defect, Spina bifida, Cerebral atrophy, Growth delay, Hypoplast... ORPHA:2308
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Short stature, Porencephalic cyst, Hypoplastic left heart, Occipita... OMIM:277170
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... OMIM:610828
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Calcification of falx cerebri,... OMIM:109400
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Microcephaly, Postnatal growth re... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Microcephaly, Postnatal growth re... ORPHA:363958
22Q11.2 Deletion Syndrome
Short stature, Ventricular septal defect, Spina bifida, Microcephaly, Abnormal pulmonary valve mo... ORPHA:567
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Fanconi Anemia
Short stature, Spina bifida, Microcephaly, Hydrocephalus, Growth delay, Abnormal cardiac septum m... ORPHA:84
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Focal Dermal Hypoplasia
Umbilical hernia, Abnormal cardiac septum morphology, Ventricular septal defect, Spina bifida ORPHA:2092
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida, Microcephaly OMIM:234100
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Cerebral atrophy, Growth delay, Hypertrophic cardiomyopathy, Cerebral edema OMIM:614462
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Short stature, Ventricular septal defect, Spina bifida, Cerebellar ... OMIM:274000
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Short stature, Ventricular septal defect, Spina bifida, Microcephaly, Postn... OMIM:180849
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Atrioventricular canal defect, Thin corpus callosum, Spi... OMIM:619480
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Macrocephaly OMIM:162200
Campomelic Dysplasia
Relative macrocephaly, Spina bifida, Hydrocephalus, Spinal dysraphism, Abnormal heart morphology,... OMIM:114290
Semilobar Holoprosencephaly
Short stature, Microcephaly, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Microcephaly, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Microcephaly, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Microcephaly, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:93924
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, T... OMIM:192350
Knobloch Syndrome 1
Occipital encephalocele, Absent septum pellucidum, Microcephaly, Spina bifida occulta, Cerebral a... OMIM:267750
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Arima Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brai... OMIM:243910
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida, Microcephaly ORPHA:322
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept... OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature 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.

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
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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