Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member C14
Synonyms:
HDJ3,  LIP6,  5730551F12Rik,  DRIP78

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 sodium level Dnajc14tm1.1(KOMP)Vlcg HOM Early adult 3.56×10-05
abnormal sleep behavior Dnajc14tm1.1(KOMP)Vlcg HOM   Early adult 4.72×10-05
abnormal auditory brainstem response Dnajc14tm1.1(KOMP)Vlcg HOM   Early adult 1.19×10-06
increased lean body mass Dnajc14tm1.1(KOMP)Vlcg HOM Early adult 6.13×10-05
decreased circulating serum albumin level Dnajc14tm1.1(KOMP)Vlcg HOM Early adult 2.62×10-05
increased circulating chloride level Dnajc14tm1.1(KOMP)Vlcg HOM   Early adult 8.59×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

36 Images

X-ray

XRay Images Forepaw

13 Images

Sleep Wake

Wake state (bmp file)

14 Images

Auditory Brain Stem Response

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

4 Images

Electroretinography

Cone waveform (pdf format)

1 Images

Electroretinography

Rod waveform (pdf format)

1 Images

Human diseases caused by Dnajc14 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 Dnajc14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Sensorineural hearing impairment ORPHA:3225
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia OMIM:607250
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating ren... OMIM:610600
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia OMIM:304800
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:203400
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Abnormal autonomic nervous system physiology, EEG with focal epileptiform discharge... ORPHA:163921
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating ren... ORPHA:556037
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Hearing impairment OMIM:618349
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Sensorineural hearing impairment, Hypokalemia, Hyponatremia,... OMIM:613090
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating ren... ORPHA:556030
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremia ORPHA:223
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Sensorineural hearin... OMIM:242150
Alg6-Cdg
Hypoalbuminemia, Low-set ears, Decreased LDL cholesterol concentration, Failure to thrive ORPHA:79320
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive ORPHA:178029
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... ORPHA:3008
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:177735
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Webb-Dattani Syndrome
Obesity, Hypernatremia OMIM:615926
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Failure to thrive, Increased circulating f... OMIM:616050
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hypsarrhythmia, Hyperglycinemia, Hypernatremia OMIM:620423
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:264350
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Sensorineural hearing impairment OMIM:615244
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:614736
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con... ORPHA:247353
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni... ORPHA:171876
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Low-set ears, Failure to thrive OMIM:608104
Mpi-Cdg
Hypoalbuminemia, Failure to thrive ORPHA:79319
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, EEG abnormality ORPHA:1930
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia ORPHA:2070
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Small for gestational age, EEG abnormality OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive, Hearing impairment, Optic nerve hypoplasia OMIM:620157
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Sensorineural hearing impairment, Decreased s... OMIM:617093
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Low-set ears, Failure to thrive OMIM:608776
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Abnormal autonomic nervous system physiology ORPHA:83601
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con... OMIM:603553
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Bartter Syndrome Type 4
Small for gestational age, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyponatremia, Severe f... ORPHA:89938
Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating ren... ORPHA:427
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive OMIM:226990
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen OMIM:613845
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Sensorineural hearing impairment, Hypokalemia, Hyponatremia,... OMIM:602522
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia ORPHA:1667
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Low-set ears, Optic atrophy OMIM:608688
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Hearing impairment, Increased erythro... ORPHA:100924
Hereditary Coproporphyria
Hyponatremia, Long hairs growing from helix of pinna, Abnormal circulating porphyrin concentration ORPHA:79273
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Reni Syndrome
Hypoalbuminemia, Sensorineural hearing impairment, Hypertriglyceridemia OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Recurrent otitis media, Cholesteatoma, Weight loss, Elevated circulating C-react... OMIM:619381
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
Alg8-Cdg
Low-set ears, Optic atrophy, Failure to thrive, Hyponatremia, Small for gestational age ORPHA:79325
Juvenile Polyposis Syndrome
Hypoalbuminemia, Failure to thrive, Hypokalemia OMIM:174900
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hartsfield Syndrome
Low-set ears, Posteriorly rotated ears, Hypernatremia OMIM:615465
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Failure to thrive, Sensorineural hearing impairment, Hyperalaninemia OMIM:618329
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,... OMIM:601678
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Sensorineural hearing impairment, Increased circulating ferritin concentration, ... ORPHA:540
Rabin-Pappas Syndrome
Conductive hearing impairment, Failure to thrive in infancy, Obesity, Sensorineural hearing impai... OMIM:620155
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Failure to thrive ORPHA:367
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hearing impairment, Cachexia OMIM:610965
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Snakebite Envenomation
Hyponatremia ORPHA:449285
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive OMIM:300200
Al Amyloidosis
Hypoalbuminemia, Postural hypotension with compensatory tachycardia, Increased circulating NT-pro... ORPHA:85443
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Small for gestational age, Failure to thrive ORPHA:97362
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,... OMIM:241200
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina... OMIM:619055
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein co... OMIM:251880
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin... ORPHA:37042
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Sensorineural hearing impairment, Hypona... ORPHA:79324
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Increased circulating ferritin concent... ORPHA:3240
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Weight loss, Failure to thrive OMIM:619487
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Orthostatic hypotension, Hypercalcemia ORPHA:199299
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormal autonomic nervous system phy... ORPHA:79473
Infant Botulism
Hyponatremia, Chronic otitis media ORPHA:178478
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Optic atrophy OMIM:617303
Acute Adrenal Insufficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Orthostatic hypotension, Hyperkalemi... ORPHA:95409
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Weight loss, Failure to thrive ORPHA:361
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Macrotia OMIM:212065
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:90791
Mirage Syndrome
Hyponatremia, Hyperkalemia, Decreased body weight OMIM:617053
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Low-set ears, Failure to thrive OMIM:617729
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment OMIM:235510
Juvenile Nephropathic Cystinosis
Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta... ORPHA:411634
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Failure to thrive OMIM:618252
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Low-set ears, Optic atrophy, Small for gestational age, Macrotia OMIM:251300
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Japanese Encephalitis
Decreased motor nerve conduction velocity, EEG with burst suppression, Hyponatremia, EEG abnormal... ORPHA:79139
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment ORPHA:95512
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Failure to thrive ORPHA:90790
Whipple Disease
Hyponatremia, Cachexia ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Hyperammonemia, Elevated circulating creatine kinase concentration, Hyponatremia, ... OMIM:610505
Legionnaires Disease
Hyponatremia ORPHA:549
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Decreased body we... ORPHA:2298
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment ORPHA:95513
Familial Dysautonomia
Hyponatremia, Optic atrophy, Orthostatic hypotension ORPHA:1764
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Addison Disease
Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Orthostatic hypotension, Hyperkalemi... ORPHA:85138
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Orthostatic hypo... ORPHA:186
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Wilson Disease
Hypouricemia, Hypoalbuminemia, Decreased nerve conduction velocity, Hyperbilirubinemia, Increased... OMIM:277900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Sheehan Syndrome
Hyponatremia, Obesity, Orthostatic hypotension, Sensorineural hearing impairment ORPHA:91355
Shigellosis
Hyponatremia, Abnormal blood ion concentration, Failure to thrive in infancy ORPHA:810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Weight loss, Hyperkalemia, Hypochloremia ORPHA:90794
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy ORPHA:505248
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive OMIM:616881
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased nerve conduction velocity, Hyponatremia, ... ORPHA:167
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive ORPHA:79396
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Recurrent otitis media, Failure to thrive ORPHA:293978
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypertriglyceridemi... ORPHA:275761
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Low-set ears, Cachexia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Slender build, Hypocalcemia, Unconjugated hyperbilirubinemia,... OMIM:613658
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Hyperkalemia, In... ORPHA:168558
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Small for gestational age, Failure to thrive, Hearing impair... OMIM:193700
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Hyperkalemia, In... ORPHA:289548
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... ORPHA:206436
Narcolepsy 7
Narcolepsy, Obesity OMIM:614250
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Failure to thrive OMIM:618426
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Failure to thrive, Hypomagnesemia, Failure to thri... OMIM:219800
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Hearing impairment, Abnormality of peripheral nerve conduction,... ORPHA:90321
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Obesity, Hyperlipidemia, Sensorineural hearing impairment, Hyponatremia, Abnormal aut... ORPHA:293987
Holoprosencephaly
Optic atrophy, Failure to thrive in infancy, Abnormal antihelix morphology, Hyponatremia, Abnorma... ORPHA:2162
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Low-set, posteriorly rotated ears, Hyponatremia, Hypokalemia, Protruding ear, ... ORPHA:534
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Low-set ears, Failure to thrive, Hearing impairment, Recurrent otitis media, Hyp... OMIM:270400
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Primary Sclerosing Cholangitis
Hypoalbuminemia, Weight loss ORPHA:171
Narcolepsy 3
Narcolepsy OMIM:609039
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Recurrent otitis media, Hyperbil... OMIM:619991
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... ORPHA:401973
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2331
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Narcolepsy 1
Narcolepsy OMIM:161400
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Cockayne Syndrome B
Optic atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to thrive,... OMIM:133540
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Optic atrophy, Sensorineural hearing impairment OMIM:604121
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Macrotia OMIM:614748
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Low-set ears, Failure to thrive, Hearing impairment, Increased circulating ferri... OMIM:619534
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Low-set ears, Increased serum bile acid concentration ORPHA:731
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction... OMIM:216400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Conductive hearing impairment, Decreased circulating renin level, Hyponatremia, Sim... OMIM:201750
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Optic atrophy, Sensorineural hearing impairment ORPHA:314404
Pmm2-Cdg
Hypoalbuminemia, Failure to thrive, Reduced thyroxin-binding globulin, Abnormal pinna morphology,... ORPHA:79318
Niemann-Pick Disease Type C
Narcolepsy, Hearing impairment ORPHA:646
African Trypanosomiasis
Narcolepsy, Papilledema, Weight loss ORPHA:3385

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 Dnajc14

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 Dnajc14.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Dnajc14tm1.1(KOMP)Vlcg PMC5503261

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
Dnajc14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnajc14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dnajc14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Dnajc14tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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