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Gene: Plxna1 MGI:107685

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

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 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.

The table below shows human diseases associated to Plxna1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dworschak-Punetha Neurodevelopmental Syndrome
OMIM:619955

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
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Fractures of the long bones, Abnormal pelvic girdle bone morphology, ... OMIM:166600
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossification, Short to... ORPHA:353298
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Femoral bowing, ... OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Fe... OMIM:300554
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
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
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Femoral bowing, ... OMIM:241530
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... OMIM:277440
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Dent Disease 1
Bulging epiphyses, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Fe... OMIM:300009
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Decreased circulating total IgM, Osteopetros... OMIM:612301
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Decreased specific anti-polysaccharide antibody level, Impaired T cell function, P... OMIM:614576
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Hereditary Orotic Aciduria
Hip dysplasia, Impaired T cell function ORPHA:30
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... OMIM:600802
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Impaired T cell function, Abnormal lymphocyte physiology, Abnorma... ORPHA:1830
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossif... ORPHA:1652
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... ORPHA:221016
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... OMIM:613179
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of th... ORPHA:2909
Orotic Aciduria
Impaired T cell function OMIM:258900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Bone cyst, Clubbing, Increased circulating antibody level OMIM:181000
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Arachnodactyly, Impaired T cell function, Multiple suture craniosynostosis, Hand polydactyly, Foo... ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function OMIM:188400
Dworschak-Punetha Neurodevelopmental Syndrome
OMIM:619955

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.

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
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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