Gene Summary

Name:
membrane associated ring-CH-type finger 7
Synonyms:
March7,  Gtrgeo17,  Axot

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Marchf7March7 HOM Early adult 3.82×10-05
decreased lean body mass Marchf7March7 HOM Early adult 4.04×10-07
increased prepulse inhibition Marchf7March7 HOM Early adult 2.18×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Marchf7 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 Marchf7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Dysplastic corpus callosum, Global brain atrophy, Microcephaly OMIM:618276
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Neurodegeneration, Progres... OMIM:615889
Diaminopentanuria
Neurodegeneration OMIM:222350
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal gan... ORPHA:300573
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Neurodegeneration, Hypoplasia o... OMIM:620210
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Neurodegeneration, Hypoplasia of th... OMIM:617672
Lissencephaly Due To Tuba1A Mutation
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... ORPHA:171680
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Hypoplasia of the corpus callosum, Atrophy/Degeneration af... OMIM:612319
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Increased circula... ORPHA:99965
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Microcephaly ORPHA:438134
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen... OMIM:614833
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Brain atrophy, A... OMIM:616900
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration, Hypoplasia of the corpus callosum OMIM:615643
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Neurodegene... OMIM:616239
Dworschak-Punetha Neurodevelopmental Syndrome
Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Col... OMIM:619955
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Neurodeg... OMIM:214150
Acute Lung Injury
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:178320
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Eye of the tiger anomaly of globus pallidus, Neurodegeneration, Cerebral atrophy OMIM:300894
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy OMIM:256600
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Microcephaly, Abnormal basal ganglia morphology, Cerebral atrophy, Fron... ORPHA:391428
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... ORPHA:540
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... ORPHA:2524
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... ORPHA:488627
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Cerebral Visual Impairment
Microcephaly, Central nervous system degeneration, Abnormal cerebral white matter morphology, Abn... ORPHA:447788
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Elevated circulating creatine kinase ... OMIM:614298
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy, Punctate periventricular T2 hyperintense foci ORPHA:309246
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy OMIM:615157
Combined Oxidative Phosphorylation Defect Type 29
Axonal degeneration, Neurodegeneration, Primary microcephaly, Diffuse cerebellar atrophy, Global ... ORPHA:478029
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Decreased circulating ferritin concentration, Cavitation of the basal ganglia OMIM:606159
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... OMIM:619103
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Elevated circulating C-reactive protein conce... OMIM:619423
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop... OMIM:614924
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... ORPHA:357058
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology ORPHA:99947
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hyperintensity of cerebral white matter on MRI, Cerebral calcification, Agenesis of corpus callos... OMIM:618476
Adrenoleukodystrophy
Abnormal cerebral white matter morphology, Neurodegeneration OMIM:300100
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Failure to thrive OMIM:616881
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Eye of the tiger anomaly of globus pallidus, Microcephaly ORPHA:79244
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Abnormal spinal cord morphology, Diffuse white mat... ORPHA:83597
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Adrenomyeloneuropathy
Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the ... ORPHA:139399
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Abnormal cerebral white matter morphology, Neurodegeneration, Cerebral edema, Cerebral atrophy OMIM:618321
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Lewy bodies OMIM:610217
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy OMIM:272750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Axonal degeneration ORPHA:88628
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Elevated circulating creatine kinase concentration, Cerebral atrophy, Microcep... OMIM:616878
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Developmental And Epileptic Encephalopathy 49
Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly OMIM:617281
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Microcephaly OMIM:615919
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... ORPHA:314679
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Failure to thrive OMIM:617864
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology, Global brain atrophy, Abnormal periventricular white... ORPHA:139396
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Cervical cord compression OMIM:309900
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
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Superficial Siderosis
Cerebellar atrophy, Atrophy of the spinal cord, Abnormal spinal cord morphology, Atrophy/Degenera... ORPHA:247245
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Nijmegen Breakage Syndrome
Neurodegeneration, Dysgammaglobulinemia, Microcephaly OMIM:251260
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... OMIM:151050
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Simplified gyral pattern, Secretory IgA deficiency, Abnormal cerebral... ORPHA:500150
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Neurodegeneration OMIM:214500
Sandhoff Disease
Exaggerated startle response OMIM:268800
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive OMIM:617527
Hurler Syndrome
Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Abnormal basal ganglia morphology, Abnormal cerebral white matte... ORPHA:68
Zttk Syndrome
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... OMIM:617140
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Cerebral degeneration, Neurodegeneration, Eye of the tiger anomaly of globu... OMIM:234200
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration OMIM:146500
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurodegeneration, Microcephaly OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Increased circulating antibody level, Decreased circulating anti... ORPHA:289390
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum ORPHA:466791
Witteveen-Kolk Syndrome
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... OMIM:613406
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Anencephaly, Spina bifida ORPHA:2369
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Tetrasomy 9P
Abnormal spinal cord morphology, Pachygyria, Lissencephaly, Polymicrogyria ORPHA:3310
Primrose Syndrome
Cerebral calcification, Neurodegeneration, Hypoplasia of the corpus callosum, Elevated circulatin... OMIM:259050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia 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 Marchf7

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 Marchf7.

No publications found that use IMPC mice or data for Marchf7.

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
Marchf7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Marchf7tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Marchf7tm33628(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Marchf7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Marchf7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Marchf7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Marchf7tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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