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Gene: H2az1 MGI:1888388

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Gene Summary

Name:
H2A.Z variant histone 1
Synonyms:
H2A.Z1,  H2A.Z,  H2afz

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IMPC Data Collections

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 startle reflex H2az1em1(IMPC)J HET   Early adult 1.09×10-06
decreased circulating total protein level H2az1em1(IMPC)J HET Early adult 5.85×10-05
preweaning lethality, complete penetrance H2az1em1(IMPC)J HOM   Early adult 0.00
embryonic lethality prior to organogenesis H2az1em1(IMPC)J HOM   E9.5 0.00

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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.

Combined SHIRPA and Dysmorphology

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Forepaw

7 Images

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Electroretinography 3

Fundus file

13 Images

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Eye Morphology

Images Ophthalmoscopy

2 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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Electrocardiogram (ECG)

Waveform Image

16 Images

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Human diseases caused by H2az1 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 H2az1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Omenn Syndrome
Hypoproteinemia OMIM:603554
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Tremor, Hyponatremia, Increased circulating ferritin conce... ORPHA:167
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Pierson Syndrome
Hypoproteinemia OMIM:609049
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Dystonia, Exaggerated startle response OMIM:620423
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Leptospirosis
Hyperproteinemia ORPHA:509
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Decreased circulating iron concentration, Exaggerated startle response 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 H2az1

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 H2az1.

No publications found that use IMPC mice or data for H2az1.

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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
H2az1em1(IMPC)J Whole-gene deletion Mice
H2az1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
H2az1tm270828(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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