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Gene: Atad3a MGI:1919214

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Gene Summary

Name:
ATPase family, AAA domain containing 3A
Synonyms:
Tob3,  2400004H09Rik

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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
decreased circulating cholesterol level Atad3atm1a(KOMP)Wtsi HET Early adult 5.11×10-07
preweaning lethality, complete penetrance Atad3atm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating HDL cholesterol level Atad3atm1a(KOMP)Wtsi HET Early adult 6.13×10-06

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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.

DSS Histology

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images
Atad3atm1a(KOMP)Wtsi
HET, Female, WTSI
Atad3atm1a(KOMP)Wtsi
HET, Female, WTSI
Atad3atm1a(KOMP)Wtsi
HET, Female, WTSI
Atad3atm1a(KOMP)Wtsi
HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
WT, Male, WTSI

View all 80 images

Atad3atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HET, Male, WTSI

View all 9 images

Atad3atm1a(KOMP)Wtsi
lateral ventricle, enlarged lateral ventricles, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
lateral ventricle, enlarged lateral ventricles, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
enlarged lateral ventricles, lateral ventricle, HET, Male, WTSI
Atad3atm1a(KOMP)Wtsi
lateral ventricle, enlarged lateral ventricles, HET, Male, WTSI

View all 7 images

Atad3atm1a(KOMP)Wtsi
abnormal coat/hair pigmentation, WT, Male, WTSI
Atad3atm1a(KOMP)Wtsi
abnormal coat/hair pigmentation, HET, Male, WTSI

Human diseases caused by Atad3a 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 Atad3a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty ORPHA:496790
Harel-Yoon Syndrome
OMIM:617183

The table below shows human diseases predicted to be associated to Atad3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty ORPHA:496790
Harel-Yoon Syndrome
OMIM:617183

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 Atad3a

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 Atad3a.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Atad3atm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Atad3atm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Atad3atm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Atad3atm1a(KOMP)Wtsi PMC6459510
ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels. Journal of cell science (July 2018) Atad3atm1c(KOMP)Wtsi Atad3atm1a(KOMP)Wtsi 29898916
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Atad3atm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Atad3atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atad3atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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