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Gene: Tmem70 MGI:1915068

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Gene Summary

Name:
transmembrane protein 70
Synonyms:
1110020A09Rik,  2210416J16Rik

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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
embryonic lethality prior to tooth bud stage Tmem70em2(IMPC)Bay HOM   E12.5 0.00
embryonic growth retardation Tmem70em2(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Tmem70em2(IMPC)Bay HET E9.5 0.00
preweaning lethality, complete penetrance Tmem70em2(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Tmem70em2(IMPC)Bay HET E9.5 0.00
abnormal embryo size Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal pharyngeal arch morphology Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal neural tube morphology Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Tmem70em2(IMPC)Bay HET E9.5 0.00
abnormal somite shape Tmem70em2(IMPC)Bay HOM E9.5 0.00
increased grip strength Tmem70em2(IMPC)Bay HET   Early adult 9.40×10-05
abnormal embryo development Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Tmem70em2(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Eye Morphology

VIP of right fundus

14 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Eye Morphology

VIP of left eye

14 Images

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X-ray

XRay Images Forepaw

8 Images

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Eye Morphology

VIP of left fundus

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Human diseases caused by Tmem70 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 Tmem70 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Growth del... OMIM:614052
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Growth delay, Intrauterine growth ... ORPHA:1194

The table below shows human diseases predicted to be associated to Tmem70 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Abnormal mitochondria... OMIM:618378
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Short stature, Increased mitochondrial number, Mildly elevated creatine kinase ORPHA:457050
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration, Short stature OMIM:619518
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex I, Decreased activity of m... OMIM:500013
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Mitochondrial swelling ORPHA:397744
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Decreased activity of mitochondrial complex I, Abnormal heart morphology,... OMIM:618250
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal mitochondrial shape ORPHA:485421
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Patent foramen ovale, Decreased activity of mitochondrial complex I... ORPHA:17
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number ORPHA:352470
Fumarase Deficiency
Decreased fumarate hydratase activity, Mitochondrial swelling, Perimembranous ventricular septal ... OMIM:606812
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Verheij Syndrome
Short stature, Growth delay, Intrauterine growth retardation, Short neck, Branchial cyst OMIM:615583
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Webbed neck ORPHA:1131
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Increased mitochondrial number, Decreased activity of mitochondr... OMIM:615578
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Abnormality of chromosome stability, Intrauterine growth retardation OMIM:600546
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Elevated circulating creatine kinase conc... ORPHA:352447
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Barth Syndrome
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Growth delay, Dilated cardiomyopa... OMIM:302060
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Increased mitochondrial number, Cardiomyopathy, Ventricular hyper... ORPHA:263297
Bor Syndrome
Branchial cyst ORPHA:107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Branchial anomaly, Cystic hygroma, Increased nuchal translucency ORPHA:453499
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Short neck, Spinal dysraphism ORPHA:2162
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Branchial fistula, Short stature, Growth delay ORPHA:261330
Oligomeganephronia
Branchial cyst ORPHA:2260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Growth delay, Branchial anomaly, Cystic hygroma, Increased nuchal translucency ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Growth delay, Branchial anomaly, Cystic hygroma, Increased nuchal translucency ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Webbed neck, Branchial fistula, Low posterior hairline ORPHA:261337
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Intrauterine growth retardation, Natal tooth, Branchial cyst, Short stature OMIM:620186
Oxoglutaric Aciduria
Hydrocephalus, Short stature, Abnormality of Krebs cycle metabolism ORPHA:31
8Q24.3 Microdeletion Syndrome
Spina bifida occulta, Branchial cyst, Short stature, Intrauterine growth retardation, Short neck,... ORPHA:508488
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Intrauterine growth reta... OMIM:113620
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Branchial fistula, Short stature, Growth delay OMIM:613406
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Hydrocephalus OMIM:164210
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Growth del... OMIM:614052
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Growth delay, Intrauterine growth ... ORPHA:1194

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 Tmem70

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 Tmem70.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (October 2019) Tmem70tm1c(KOMP)Wtsi Tmem70tm1a(KOMP)Wtsi Tmem70tm1d(KOMP)Wtsi 31652072
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. Human molecular genetics (November 2016) Tmem70tm1a(KOMP)Wtsi Tmem70tm1b(KOMP)Wtsi 28173120

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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
Tmem70tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tmem70em2(IMPC)Bay Exon Deletion Mice
Tmem70em1(IMPC)Bay Deletion Mice
Tmem70tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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