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Gene: Sema5b MGI:107555

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Gene Summary

Name:
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
Synonyms:
SemG,  Semag

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased hematocrit Sema5btm1a(EUCOMM)Wtsi HOM Early adult 4.39×10-05
increased startle reflex Sema5btm1a(EUCOMM)Wtsi HOM   Early adult 1.58×10-06

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.

Phenotype associated images not available

Human diseases caused by Sema5b 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 Sema5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:263400
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Anemia OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Tay-Sachs Disease
Hepatosplenomegaly, Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia ORPHA:91500
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Dystonia ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Anemia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Sema5b

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 Sema5b.

No publications found that use IMPC mice or data for Sema5b.

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
Sema5btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sema5btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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