Gene Summary

Name:
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)
Synonyms:
1810041M08Rik

IMPC Data Collections

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
decreased total retina thickness Atp5g2tm2b(EUCOMM)Hmgu HET   Early adult 3.08×10-05
abnormal lens morphology Atp5g2tm2b(EUCOMM)Hmgu HET   Early adult 1.03×10-08
increased fasting circulating glucose level Atp5g2tm2b(EUCOMM)Hmgu HET Early adult 9.19×10-05
preweaning lethality, incomplete penetrance Atp5g2tm2b(EUCOMM)Hmgu HOM   Early adult 0.0551

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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Human diseases caused by Atp5g2 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 Atp5g2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 35
Cataract OMIM:609376
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tole... OMIM:147630
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Retinal dystrophy OMIM:613763
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Bardet-Biedl Syndrome 9
Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Astigmatism,... OMIM:615986
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Diabetic ketoacidosis, ... ORPHA:99886
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Aniridia 1
Aniridia, Glucose intolerance, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, ... OMIM:106210
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391

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 Atp5g2

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 Atp5g2.

No publications found that use IMPC mice or data for Atp5g2.

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MGI Allele Allele Type Produced
Atp5g2tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Atp5g2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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