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Gene: Zmym2 MGI:1923257

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Gene Summary

Name:
zinc finger, MYM-type 2
Synonyms:
Zfp198,  MYM,  SCLL,  FIM,  RAMP

Order Alleles

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
preweaning lethality, complete penetrance Zmym2em1(IMPC)J HOM   Early adult 0.00
embryonic growth retardation Zmym2em1(IMPC)J HOM E9.5 0.00
increased leukocyte cell number Zmym2em1(IMPC)J HET Early adult 1.25×10-05
embryonic lethality prior to tooth bud stage Zmym2em1(IMPC)Bay HOM   E12.5 0.00
abnormal retina outer nuclear layer morphology Zmym2em1(IMPC)Bay HET Early adult 1.55×10-05
abnormal heart morphology Zmym2em1(IMPC)Bay HOM E9.5 0.00
increased startle reflex Zmym2em1(IMPC)J HET Early adult 2.05×10-06
edema Zmym2em1(IMPC)Bay HOM E9.5 0.00
abnormal pericardium morphology Zmym2em1(IMPC)Bay HOM E9.5 0.00
abnormal somite shape Zmym2em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Zmym2em1(IMPC)Bay HOM   Early adult 0.00
increased total body fat amount Zmym2em1(IMPC)J HET Early adult 1.17×10-05
abnormal forebrain development Zmym2em1(IMPC)J HOM E9.5 0.00
increased startle reflex Zmym2em1(IMPC)Bay HET Early adult 1.02×10-07
abnormal neural tube morphology Zmym2em1(IMPC)Bay HOM E9.5 0.00
abnormal hindbrain development Zmym2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Zmym2em1(IMPC)Bay HOM E9.5 0.00
increased circulating alkaline phosphatase level Zmym2em1(IMPC)J HET Early adult 1.48×10-12
decreased prepulse inhibition Zmym2em1(IMPC)Bay HET Early adult 9.45×10-05
abnormal neural tube closure Zmym2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Zmym2em1(IMPC)J HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

VIP of left eye

18 Images

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Eye Morphology

VIP of right eye

18 Images

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Eye Morphology

VIP of left fundus

18 Images

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Eye Morphology

VIP of right fundus

18 Images

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Electroretinography 3

Fundus file

7 Images

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Download thumbnail Download
MicroCT E9.5

Embryo reconstruction

7 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

17 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Zmym2 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 Zmym2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

The table below shows human diseases predicted to be associated to Zmym2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,... OMIM:617099
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy OMIM:616881
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... ORPHA:63259
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... OMIM:617301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia OMIM:253800
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
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:220386
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect, Abnormal heart morphology ORPHA:798
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia, Uterine prolapse, Anemia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
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 Zmym2

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 Zmym2.

No publications found that use IMPC mice or data for Zmym2.

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
Zmym2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Zmym2tm449824(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zmym2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zmym2em1(IMPC)J Exon Deletion Mice
Zmym2em1(IMPC)Bay Exon Deletion Mice

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