banner
Genes Phenotypes Help, News, Blog

Gene: Ncapd3 MGI:2142989

Log in to follow

Gene Summary

Name:
non-SMC condensin II complex, subunit D3
Synonyms:
B130055D15Rik,  4632407J06Rik,  2810487N22Rik

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 circulating cholesterol level Ncapd3em1(IMPC)J HET Early adult 9.84×10-07
increased circulating phosphate level Ncapd3em1(IMPC)J HET   Early adult 5.72×10-07
preweaning lethality, complete penetrance Ncapd3em1(IMPC)J HOM   Early adult 0.00
increased circulating aspartate transaminase level Ncapd3em1(IMPC)J HET Early adult 1.58×10-05
increased circulating HDL cholesterol level Ncapd3em1(IMPC)J HET Early adult 2.60×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
Electroretinography 3

Fundus file

7 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

14 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

View images

Human diseases caused by Ncapd3 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 Ncapd3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Primary Microcephaly
ORPHA:2512
Microcephaly 22, Primary, Autosomal Recessive
OMIM:617984

The table below shows human diseases predicted to be associated to Ncapd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Decreased ... ORPHA:470
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Dent Disease 1
Hypophosphatemia OMIM:300009
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Mccune-Albright Syndrome
Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level ORPHA:562
Opsismodysplasia
Hypophosphatemia OMIM:258480
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Raine Syndrome
Hypophosphatemia OMIM:259775
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Steatorrhea ORPHA:699
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Microcephaly 22, Primary, Autosomal Recessive
OMIM:617984
Autosomal Recessive Primary Microcephaly
ORPHA:2512

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 Ncapd3

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 Ncapd3.

There are 1 publication 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) Ncapd3em1(IMPC)Wtsi PMC7263671

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
Ncapd3tm354108(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ncapd3em1(IMPC)Wtsi Deletion Mice
Ncapd3em1(IMPC)J Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter