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Gene: Pdhb MGI:1915513

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Gene Summary

Name:
pyruvate dehydrogenase (lipoamide) beta
Synonyms:
2610103L06Rik

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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
abnormal somite shape Pdhbem1(IMPC)Bay HOM E9.5 0.00
abnormal forebrain development Pdhbem1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Pdhbem1(IMPC)Bay HOM Early adult 0.00
abnormal embryo size Pdhbem1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Pdhbem1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, incomplete penetrance Pdhbem1(IMPC)Bay HOM   Early adult 0.00
embryonic growth retardation Pdhbem1(IMPC)Bay HOM E9.5 0.00
abnormal pharyngeal arch morphology Pdhbem1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube morphology Pdhbem1(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Pdhbem1(IMPC)Bay HOM   E12.5 0.00
abnormal retina blood vessel morphology Pdhbem1(IMPC)Bay HET Early adult 8.14×10-05

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.

X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation ORPHA:255138
Pyruvate Dehydrogenase E1-Beta Deficiency
OMIM:614111

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Verheij Syndrome
Branchial cyst, Short stature, Short neck, Growth delay, Intrauterine growth retardation OMIM:615583
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Short stature, Webbed neck ORPHA:1131
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
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
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
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
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Oligomeganephronia
Branchial cyst ORPHA:2260
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
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Short neck, Intrauterine ... ORPHA:508488
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
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
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation ORPHA:255138
Pyruvate Dehydrogenase E1-Beta Deficiency
OMIM:614111

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 Pdhb

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 Pdhb.

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

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MGI Allele Allele Type Produced
Pdhbem1(IMPC)Bay Exon Deletion Mice
Pdhbtm231174(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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