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Gene: Orc6 MGI:1929285

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Gene Summary

Name:
origin recognition complex, subunit 6
Synonyms:
Orc6l,  6720420I10Rik

Order Alleles

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 Orc6em1(IMPC)J HOM   Early adult 0.00
impaired pupillary reflex Orc6em1(IMPC)J HET Early adult 2.92×10-08
hyperactivity Orc6em1(IMPC)J HET   Early adult 8.94×10-05
decreased circulating creatinine level Orc6em1(IMPC)J HET Early adult 9.20×10-05
persistence of hyaloid vascular system Orc6em1(IMPC)J HET   Early adult 5.85×10-06
embryonic lethality prior to organogenesis Orc6em1(IMPC)J HOM   E9.5 0.00

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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Orc6 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 Orc6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Meier-Gorlin Syndrome 3
OMIM:613803
Ear-Patella-Short Stature Syndrome
ORPHA:2554

The table below shows human diseases predicted to be associated to Orc6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Re... ORPHA:284454
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Cherubism
Optic neuropathy, Marcus Gunn pupil, Macular scar OMIM:118400
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Hyperlysinuria OMIM:238700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... ORPHA:231736
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239500
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Hartnup Disorder
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Tremor OMIM:617744
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Hyperglycinuria, Hyperglycinemia, Impulsivity OMIM:605899
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Coloboma OMIM:274270
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Dystonia, Tremor OMIM:615924
Coach Syndrome 2
Chorioretinal coloboma, Elevated circulating creatinine concentration, Coloboma OMIM:619111
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... OMIM:165550
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy ORPHA:75858
Histidinemia
Hyperhistidinemia, Hyperactivity, Histidinuria ORPHA:2157
Cerebral Creatine Deficiency Syndrome 2
Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Elevated circulating creatinine concentration OMIM:219750
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Optic atrophy, Hyperactivity OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Optic disc coloboma, Remnants... OMIM:120200
C3 Glomerulopathy
Central serous chorioretinopathy, Yellow/white lesions of the retina, Drusen, Elevated circulatin... ORPHA:329918
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Elevated circulating creatinine concentration OMIM:617056
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Senior-Loken Syndrome 1
Retinal dystrophy, Polydipsia, Elevated circulating creatinine concentration OMIM:266900
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Hyperuricemia, Dystonia, Elevated circulating creatinine concentration ORPHA:79233
Papillorenal Syndrome
Morning glory anomaly, Macular degeneration, Retinal detachment, Macular hyperpigmentation, Chori... OMIM:120330
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Decreased serum creatinine OMIM:618885
Citrullinemia Type Ii
Hypoproteinemia, Abnormal eating behavior, Hyperactivity, Restlessness, Acute hyperammonemia, Ele... ORPHA:247585
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Attenuation of retinal blood vessels, Elevated circulating creatinine concentration OMIM:614376
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration OMIM:620138
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... OMIM:613095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Oligomeganephronia
Optic disc coloboma, Polydipsia, Elevated circulating creatinine concentration ORPHA:2260
Relapsing Fever
Increased total bilirubin, Elevated circulating C-reactive protein concentration, Elevated circul... ORPHA:91547
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Retinal cotton wool spot, Elevated circulating creatinine c... ORPHA:247691
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... OMIM:608836
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Retinal fold, Glial remna... ORPHA:91495
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia OMIM:618314
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Polydipsia, Hypocalcemia, Aminoaciduri... ORPHA:411634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, R... OMIM:614643
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysphagia, Intention tremor, Optic atrophy, Dystonia, Impulsivity OMIM:610217
Pierson Syndrome
Hypoproteinemia, Retinal vascular tortuosity, Hypopigmentation of the fundus, Retinal detachment,... OMIM:609049
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Vitreous hemorrhage, Attention deficit hyperactivity dis... OMIM:620185
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:85450
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal fold, Retinal nonattachment, Iris coloboma OMIM:221900
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... ORPHA:36234
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Argininemia
Hyperargininemia, Hyperactivity, Hyperammonemia, Diaminoaciduria OMIM:207800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hyperuricemia, Elevated circulating creatinine concentration OMIM:174000
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Agitation ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Agitation ORPHA:424
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Epiretinal membrane, Dysphagia, Remnants of the hyaloid vascular... ORPHA:637
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:49041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality... ORPHA:91500
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Hemorrhagic Fever-Renal Syndrome
Agitation, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Marburg Hemorrhagic Fever
Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... ORPHA:99826
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Elevated circulating creatinine concentration OMIM:137920
Norrie Disease
Abnormal retinal vascular morphology, Retinal detachment, Attention deficit hyperactivity disorde... ORPHA:649
Neuroocular Syndrome
Lens coloboma, Hypoplasia of the fovea, Iris coloboma, Attention deficit hyperactivity disorder, ... OMIM:619539
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Chorioretinal coloboma, Iris coloboma OMIM:157170
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Coloboma, Increased circulati... OMIM:619534
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... ORPHA:449395
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
Meier-Gorlin Syndrome 3
OMIM:613803
Ear-Patella-Short Stature Syndrome
ORPHA:2554

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 Orc6

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 Orc6.

No publications found that use IMPC mice or data for Orc6.

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MGI Allele Allele Type Produced
Orc6em1(IMPC)J Exon Deletion Mice

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