Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
plexin A1
Synonyms:
PlexA1,  Plxn1,  2600013D04Rik,  NOV

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 Plxna1 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 Plxna1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Bone marrow hypocellul... OMIM:166600
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Tibial b... OMIM:600081
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Tibial b... OMIM:300554
Pick Disease Of Brain
Gliosis OMIM:172700
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis ORPHA:1522
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Tibial b... OMIM:241530
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Tibial b... OMIM:264700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Dent Disease 1
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Tibial b... OMIM:300009
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Tibial b... OMIM:277440
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal trabecular bone morpho... OMIM:612301
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecular bone morphology ORPHA:83451
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Sparse bone trabeculae, Tibial bowing, Osteomalacia, Thin bony cortex, Irregular, rac... ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hip dysplasia, Impaired T cell function, P... OMIM:614576
T-Cell Immunodeficiency With Thymic Aplasia
Metaphyseal dysostosis, Reduced delayed hypersensitivity OMIM:242700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Hereditary Orotic Aciduria
Hip dysplasia, Impaired T cell function ORPHA:30
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Decreased ci... ORPHA:572
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Shallow acetabular fossae, Bone marrow hypocellularity, Abnormal ... ORPHA:1830
Dent Disease
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Enlarged... ORPHA:1652
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Partial IgA deficiency, Lack of... ORPHA:35078
Rothmund-Thomson Syndrome Type 1
Genu varum, Osteopenia, Metaphyseal sclerosis, Abnormal trabecular bone morphology, Patellar hypo... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Genu varum, Osteopenia, Metaphyseal sclerosis, Abnormal trabecular bone morphology, Patellar hypo... ORPHA:221016
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physiology, Impa... OMIM:613179
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Short thumb, Metaphyseal... ORPHA:2909
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:600903
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Orotic Aciduria
Impaired T cell function OMIM:258900
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Clubbing, Bone cyst, Abnormality of T cell physiology OMIM:181000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Inc... OMIM:618213
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion ORPHA:83471
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:301000
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Foot polydactyly, Multiple suture craniosynostosis, Hand polydactyly, Impaired T cell function, A... ORPHA:567
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function OMIM:188400

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 Plxna1

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 Plxna1.

No publications found that use IMPC mice or data for Plxna1.

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MGI Allele Allele Type Produced
Plxna1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Plxna1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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