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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
preweaning lethality, complete penetrance Coa6em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal kidney morphology Coa6em1(IMPC)Ccpcz HET Early adult 0.00
increased kidney weight Coa6em1(IMPC)Ccpcz HET Early adult 3.47×10-13
embryonic lethality prior to organogenesis Coa6em1(IMPC)Ccpcz HOM   E9.5 0.00
abnormal seminal vesicle morphology Coa6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal vertebral arch morphology Coa6em1(IMPC)Ccpcz HET   Early adult 5.08×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Lateral 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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

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
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Meckel Syndrome, Type 8
Short neck, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, Enlarged ki... OMIM:613885
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Nephroblastoma, Enlarged kidney OMIM:618272
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis,... ORPHA:3109
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morpholo... OMIM:314390
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... OMIM:615709
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Pancreatic cysts, Splenomegaly, Abnormal sacrum morphology, A... ORPHA:464329
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Scoliosis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Short neck, Splenomegaly, Nephrotic syndrome, Focal segmental glomerul... OMIM:617303
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Splenomegaly, Stage 5 c... OMIM:208540
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Scoliosis, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarge... OMIM:613091
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Short neck, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Nephrolithiasis, Focal segmental gl... OMIM:232220
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... OMIM:612651
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Lumbar kyphosi... ORPHA:505248
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t... OMIM:252500
H Syndrome
Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, Decreased t... ORPHA:168569
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Prostatitis, Chronic kidney disea... ORPHA:449395
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Enlarged kidney, Hyperparathyroidism, Unilateral renal agenesis OMIM:618188
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Short neck, Bicornuate uterus, Hypo... ORPHA:79328
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En... OMIM:608978
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occul... ORPHA:500095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N... ORPHA:79259
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas... ORPHA:116
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, S... ORPHA:731
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Hyperl... OMIM:615873
Cardiac-Urogenital Syndrome
Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus... OMIM:618280
Ogden Syndrome
Global glomerulosclerosis, Short neck, Cardiomegaly, Cryptorchidism, Hydrocele testis, Polycystic... OMIM:300855
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Hepatomegaly, Block vertebrae, Renal agenesis, Cardiomegaly, Horseshoe kid... OMIM:306955
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Cryptorchidism, Splenomegaly, Renal cyst, Duplic... OMIM:312870
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Nephrolithiasis, Abnormal form of th... ORPHA:666
Myhre Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Enlarged vertebral pedicles, Platyspondyly OMIM:139210
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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