Gene Summary

Name:
asparagine-linked glycosylation 13
Synonyms:
Glt28d1,  4833435D08Rik,  MDS031,  2810046O15Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Alg13tm1a(KOMP)Wtsi HOM   Early adult 2.53×10-06
increased total body fat amount Alg13tm1a(KOMP)Wtsi HOM   Early adult 3.29×10-09
decreased bone mineral density Alg13tm1a(KOMP)Wtsi HOM   Early adult 1.11×10-15
decreased bone mineral content Alg13tm1a(KOMP)Wtsi HOM   Early adult 3.22×10-11
decreased lean body mass Alg13tm1a(KOMP)Wtsi HOM   Early adult 1.28×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Histopathology

Images

5 Images

Legacy Phenotype Associated Images

View all 67 images

Human diseases caused by Alg13 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 Alg13 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Seizure OMIM:300884
Alg13-Cdg
Infantile spasms, Abnormal lateral ventricle morphology ORPHA:324422
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777

The table below shows human diseases predicted to be associated to Alg13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemimegalencephaly, Cortical dysplasia, Focal impaired awareness seizure, Focal cor... OMIM:607341
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Multicentric femoral head ossification, Delayed femoral head ossification, Limited ... ORPHA:168621
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis, Temporal cortical atrophy, Frontotemporal c... ORPHA:100070
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Cerebral cortex with spongiform changes, Astrocytosis, Hyperintensity of cerebr... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Myoclonus, Astrocytosis OMIM:600795
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Astrocytosis, Focal motor seizure OMIM:172500
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Frontotemporal cerebral atrophy, Abnormal cerebral white matter m... ORPHA:275864
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Basal ganglia cysts, Astrocytosis, Atrophy/Degeneration involving the caud... ORPHA:225154
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Megalencephaly, Astrocytosis OMIM:611087
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Focal T2 hyperintense basal ganglia lesion, Diffuse spongiform leukoencephalopathy,... ORPHA:282166
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Status epilepticus, Gliosis, Cerebral cortical neurodegeneration, Myoclonus, Epilep... OMIM:203700
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Failure to ... OMIM:618963
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Astrocytosis, Focal-onset seizure, Lissencephaly, Pachygyria, Generalized non-mot... ORPHA:258
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... ORPHA:98850
Majeed Syndrome
Leukocytosis, Increased bone mineral density, Congenital hypoplastic anemia, Flexion contracture,... ORPHA:77297
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis OMIM:612840
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Cockayne Syndrome Type 3
Progressive microcephaly, Astrocytosis, Subcortical white matter calcifications, Cerebral white m... ORPHA:90324
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Microcephaly, Abnormal globus pallidus morphology, Abnormal basal ganglia MRI signal intensity, A... ORPHA:309854
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Beta-Thalassemia Intermedia
Osteopenia, Hepatosplenomegaly, Leukocytosis, Osteoporosis, Persistence of hemoglobin F, Splenome... ORPHA:231222
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Neutrophilia, Increased proportion of ... OMIM:617099
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Seizure OMIM:300884
Alg13-Cdg
Infantile spasms, Abnormal lateral ventricle morphology ORPHA:324422
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777

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.

Phenotype Allele Zygosity Sex Life Stage
Ovary - hypoplasia Alg13tm1a(KOMP)Wtsi HOM Early adult
Testes - process of degenerative change Alg13tm1a(KOMP)Wtsi HEM Early adult
Uterus - hypoplasia Alg13tm1a(KOMP)Wtsi HOM Early adult

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 Alg13.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Alg13tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Alg13tm1a(KOMP)Wtsi Alg13tm1a(KOMP)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Alg13tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Alg13tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Alg13tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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