banner
Genes Phenotypes Help, News, Blog

Gene: Tmem70 MGI:1915068

Log in to follow

Gene Summary

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

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
abnormal embryo turning Tmem70em2(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal neural tube morphology Tmem70em2(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Tmem70em2(IMPC)Bay HOM   E12.5 0.00
abnormal pharyngeal arch morphology Tmem70em2(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Tmem70em2(IMPC)Bay HOM   Early adult 0.00
abnormal somite shape Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Tmem70em2(IMPC)Bay HET E9.5 0.00
abnormal embryo turning Tmem70em2(IMPC)Bay HET E9.5 0.00
increased grip strength Tmem70em2(IMPC)Bay HET   Early adult 7.07×10-05
embryonic growth retardation Tmem70em2(IMPC)Bay HET E9.5 0.00
abnormal embryo development Tmem70em2(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Tmem70em2(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 right fundus

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

8 Images

View images
Download thumbnail Download
MicroCT E9.5

Embryo reconstruction

6 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
Eye Morphology

VIP of left eye

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images
Eye Morphology

VIP of right eye

14 Images

View images
Eye Morphology

VIP of left fundus

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images

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

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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter