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Gene: Cdca8 MGI:1196274

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Gene Summary

Name:
cell division cycle associated 8
Synonyms:
Borealin,  D4Ertd421e,  4831429J16Rik,  DasraB

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
increased thermal nociceptive threshold Cdca8tm1a(KOMP)Wtsi HET   Early adult 2.99×10-05
increased circulating LDL cholesterol level Cdca8tm1a(KOMP)Wtsi HET Early adult 4.30×10-05
increased circulating alkaline phosphatase level Cdca8tm1a(KOMP)Wtsi HET Early adult 6.25×10-05
increased circulating chloride level Cdca8tm1a(KOMP)Wtsi HET Early adult 4.73×10-06

Download data as:  TSV  XLS

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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.

Legacy Phenotype Associated Images
Cdca8tm1a(KOMP)Wtsi
body, HET, Female, WTSI
Cdca8tm1a(KOMP)Wtsi
body, HET, Female, WTSI
Cdca8tm1a(KOMP)Wtsi
HET, Female, WTSI
Cdca8tm1a(KOMP)Wtsi
body, HET, Female, WTSI
Cdca8tm1a(KOMP)Wtsi
body, HET, Female, WTSI

View all 128 images

Cdca8tm1a(KOMP)Wtsi
eye, persistence of hyaloid vascular system, HET, Female, WTSI

Human diseases caused by Cdca8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdca8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:214700
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... ORPHA:89938
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... OMIM:241200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Laron Syndrome
Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia ORPHA:90794
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Fanconi Anemia, Complementation Group E
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227650
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Patent ductus arteriosus, Prolonged G2 phase of cell cycle OMIM:227646
Fanconi Anemia, Complementation Group C
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227645
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Cdca8

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 Cdca8.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdca8tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdca8tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdca8tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdca8tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Cdca8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cdca8tm36738(pL1L2_frt_BetactP_neo_frt_lox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cdca8tm36738(pL1L2_GT1_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cdca8tm356569(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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