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Gene: Uqcc3 MGI:2147553

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Gene Summary

Name:
ubiquinol-cytochrome c reductase complex assembly factor 3
Synonyms:
Cbp4,  AI462493

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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
abnormal heart looping Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal hindbrain development Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal optic vesicle formation Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal otic vesicle morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
pale yolk sac Uqcc3em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Uqcc3em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal visceral yolk sac morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal pericardium morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal tail bud morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal pharyngeal arch morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal midbrain development Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal limb bud morphology Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal forebrain development Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo development Uqcc3em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube closure Uqcc3em1(IMPC)Bay HOM E9.5 0.00

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.

Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Human diseases caused by Uqcc3 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 Uqcc3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation OMIM:616111

The table below shows human diseases predicted to be associated to Uqcc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Clinodactyly, Growth delay,... OMIM:615583
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... ORPHA:1131
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... OMIM:609166
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... ORPHA:50815
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia OMIM:600776
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:1908
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Tapered finger, Sensorineural hearing impairment, Protruding e... ORPHA:435938
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo... OMIM:601357
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... ORPHA:2162
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... OMIM:113650
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Branchiootic Syndrome
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... ORPHA:52429
Joubert Syndrome 15
Coloboma, Preaxial polydactyly, Exencephaly OMIM:614464
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... ORPHA:261330
Alg3-Cdg
Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tu... ORPHA:79321
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Spinal dysraphism, A... ORPHA:1926
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... ORPHA:352665
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment ORPHA:2260
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... OMIM:617660
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... ORPHA:508488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Mixed hearing impairment, Broad hallux, Short stature, Conductive he... OMIM:620186
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Posteriorly rotated ears, Prominent antihelix, Branchial anomaly, Short palm, Prom... ORPHA:466950
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Microtia, Conductive hearing impairme... ORPHA:861
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Branchiooculofacial Syndrome
Posteriorly rotated ears, Proximal placement of thumb, Short neck, Postnatal growth retardation, ... OMIM:113620
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Sens... OMIM:164210
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
Witteveen-Kolk Syndrome
Uplifted earlobe, Proximal placement of thumb, Protruding ear, Short palm, Clinodactyly of the 5t... OMIM:613406
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... OMIM:600145
Alobar Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... ORPHA:220386
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the stapes, Overlapping fingers, Overlapping toe, Short... ORPHA:798
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Talipes equinovarus OMIM:601374
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation OMIM:616111

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 Uqcc3

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 Uqcc3.

No publications found that use IMPC mice or data for Uqcc3.

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
Uqcc3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Uqcc3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Uqcc3em1(IMPC)Bay Whole-gene deletion Mice

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