Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ABL proto-oncogene 2, non-receptor tyrosine kinase
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
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Cognitive impairment, Exaggerated startle response, Dystonia ORPHA:309246
Leukodystrophy, Hypomyelinating, 13
Irritability, Failure to thrive, Exaggerated startle response, Ataxia OMIM:616881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Inability to walk, Chorea, Short attention span, Irritability, Exaggerated sta... OMIM:617864
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Dementia, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response OMIM:618056
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startl... OMIM:268800
Tay-Sachs Disease
Depression, Memory impairment, Laryngeal dystonia, Inability to walk, Short attention span, Tremo... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia OMIM:620451
Asparagine Synthetase Deficiency
Irritability, Failure to thrive, Tremor, Exaggerated startle response OMIM:615574
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Cognitive impairment, Exaggerated startle response OMIM:617527
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Irritability, Exaggerated startle response OMIM:620423
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Failure to thrive, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Dystonia, Inability to walk, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, 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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