Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
v-abl Abelson murine leukemia viral oncogene 2 (arg, Abelson-related gene)
Synonyms:
Abll,  Arg

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 Abl2 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 Abl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response OMIM:617028
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Chorea, Exaggerated startl... ORPHA:309246
Stiff Person Spectrum Disorder
Emotional lability, Agoraphobia, Falls, Difficulty walking, Anxiety, Exaggerated startle response ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability, Ataxia, Failure to thrive OMIM:616881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Irritability, Failure to thrive, Chorea, Exaggerated startle response OMIM:617864
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Chorea, Exaggerated startle response, Dystonia OMIM:272750
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia, Apathy OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking ORPHA:320406
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Ir... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Anxiety, Exaggerated startle response, Dystonia ORPHA:438216
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Gait ataxia, Exaggerated startle response, Dysmetria OMIM:618056
Stiff-Person Syndrome
Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response OMIM:184850
Sandhoff Disease
Ataxia, Exaggerated startle response, Impotence, Progressive psychomotor deterioration, Impaired ... OMIM:268800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk OMIM:609541
Tay-Sachs Disease
Gait disturbance, Inability to walk, Anxiety, Memory impairment, Tremor, Exaggerated startle resp... ORPHA:845
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk OMIM:620114
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Asparagine Synthetase Deficiency
Exaggerated startle response, Failure to thrive OMIM:615574
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Anxiety OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response, Failure to thrive OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia, Failure to thrive ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Irritability OMIM:618367
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Inability to walk, Broad-based gait ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, 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 Abl2

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 Abl2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Abelson tyrosine-protein kinase 2 regulates myoblast proliferation and controls muscle fiber length. eLife (December 2017) Abl2tm1a(EUCOMM)Hmgu PMC5752197

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
Abl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Abl2em1(IMPC)Ccpcz Exon Deletion Mice

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