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Gene: Coa6 MGI:1915142

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Gene Summary

Name:
cytochrome c oxidase assembly factor 6
Synonyms:
1810063B05Rik

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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 seminal vesicle morphology Coa6em1(IMPC)Ccpcz HET Early adult 0.00
embryonic lethality prior to organogenesis Coa6em1(IMPC)Ccpcz HOM   E9.5 0.00
increased kidney weight Coa6em1(IMPC)Ccpcz HET Early adult 3.48×10-13
abnormal kidney morphology Coa6em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Coa6em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal vertebral arch morphology Coa6em1(IMPC)Ccpcz HET   Early adult 5.08×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Coa6 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 Coa6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
OMIM:616501

The table below shows human diseases predicted to be associated to Coa6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Short neck, Hyperechogenic kidneys, Ambiguous genit... OMIM:613885
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Sacral dimple, Kyphosis OMIM:618272
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Back pain, Ureteropelvic junction obstructi... OMIM:143400
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Diaphanospondylodysostosis
Enlarged kidney, Lumbosacral meningocele, Nephroblastomatosis, Absent in utero ossification of ve... OMIM:608022
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Abnormality of the vertebral colum... OMIM:314390
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Vertebral clefting, Persistent cloaca, ... OMIM:615709
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal thoracic spine morphology, Abnor... ORPHA:464329
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Scoliosis, Nephroblastoma, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... OMIM:617303
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Hyperechogenic pancreas, Polycystic kidney dysplasia, Pancreatic c... OMIM:208540
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Scoliosis, Renal dysplasia, Ambiguous genitalia, Mi... OMIM:613091
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Short neck, Pancreatic fibrosis, Cystic renal dysplasia OMIM:200995
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni... OMIM:612651
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Beaking of vertebral bodies T12-L3, Thoracolumbar kyphoscoliosis, ... OMIM:252500
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Lumbar kyphosis, Thoracic kyphosis, Nephrotic syndrome, Hepatosplenomegaly, Prot... ORPHA:505248
H Syndrome
Abnormality of the kidney, Enlarged kidney, Azoospermia, Decreased testicular size, Hepatosplenom... ORPHA:168569
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Hyperparathyroidism OMIM:618188
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, A... ORPHA:79328
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Meacham Syndrome
Blind vagina, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Hor... OMIM:608978
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr... ORPHA:79259
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Spina bifida occulta, Bifid ureter, Nephroblastoma, Renal malrotation, Multicyst... ORPHA:500095
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Leprechaunism
Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Overgrowth of ex... ORPHA:508
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:615873
Ogden Syndrome
Enlarged kidney, Polycystic kidney dysplasia, Scoliosis, Decreased testicular size, Global glomer... OMIM:300855
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Block vertebrae, Absence of the sacrum, Cardiomega... OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Scoliosis, Vertebral segmentation defect, Renal cyst,... OMIM:312870
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Abnormal form of the vertebral bodies, Testicular ... ORPHA:744
Myhre Syndrome
Enlarged vertebral pedicles, Platyspondyly, Short neck, Cryptorchidism, Vertebral fusion OMIM:139210
Osteogenesis Imperfecta
Vertebral compression fracture, Enlarged vertebral pedicles, Hypercalciuria, Abnormal form of the... ORPHA:666
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
OMIM:616501

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 Coa6

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 Coa6.

No publications found that use IMPC mice or data for Coa6.

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MGI Allele Allele Type Produced
Coa6em1(IMPC)Ccpcz Intra-exon deletion Mice

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