Gene Summary

Name:
DEAH (Asp-Glu-Ala-His) box polypeptide 30
Synonyms:
Ddx30,  helG,  2810477H02Rik,  C130058C04Rik

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
preweaning lethality, complete penetrance Dhx30tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased fasting circulating glucose level Dhx30tm1.1(KOMP)Vlcg HET Early adult 6.94×10-10
increased circulating sodium level Dhx30tm1.1(KOMP)Vlcg HET Early adult 7.90×10-05
embryonic lethality prior to tooth bud stage Dhx30tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased startle reflex Dhx30tm1.1(KOMP)Vlcg HET   Early adult 9.52×10-05
increased circulating free fatty acids level Dhx30tm1.1(KOMP)Vlcg HET   Early adult 7.18×10-05
decreased circulating glucose level Dhx30tm1.1(KOMP)Vlcg HET Early adult 1.84×10-11
decreased locomotor activity Dhx30tm1.1(KOMP)Vlcg HET   Early adult 4.02×10-05

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

45 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Human diseases caused by Dhx30 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 Dhx30 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Inability to walk, Dystonia OMIM:617804

The table below shows human diseases predicted to be associated to Dhx30 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures, Increased circulating free... ORPHA:293964
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide con... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hypoargininemia, Hyperglutaminemia, Hyperalaninemia, Lethargy, Low plasma citrull... OMIM:615751
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... ORPHA:71212
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:240200
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Dystonia, Ataxia, Hyperalaninemia, Tip-toe gait, Elevated plas... ORPHA:3008
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyperkalemia, Hyponatremia, Decreased circulating c... ORPHA:199296
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia OMIM:610021
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
3-Methylglutaconic Aciduria Type 1
Dystonia, Progressive cerebellar ataxia, Hypoglycemia ORPHA:67046
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:614736
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Mandibuloacral Dysplasia
Hyperinsulinemia, Hypertriglyceridemia, Increased circulating free fatty acid level, Glucose into... ORPHA:2457
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Reactive hypoglycemia, Increased ... ORPHA:324575
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating corticosterone level, Hyperkalemia, Incr... OMIM:610600
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:620126
Neuroleptic Malignant Syndrome
Hyperuricemia, Oculogyric crisis, Hyperphosphatemia, Elevated circulating creatine kinase concent... ORPHA:94093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:620125
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabet... OMIM:618858
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
D-Glyceric Aciduria
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinemia ORPHA:941
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia OMIM:615026
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Posttransplant Acute Limbic Encephalitis
Ataxia, Hyponatremia, Dystonia ORPHA:163921
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Central Diabetes Insipidus
Lethargy, Hyponatremia ORPHA:178029
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Hyperlipidemia, Lethargy, Ketotic hypoglycemia ORPHA:2089
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabet... OMIM:606176
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia OMIM:610768
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Hyperkalemia, Eleva... ORPHA:556037
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste... OMIM:620211
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypoglycemia, Lethargy, Increased serum pyruvate, Dystonia OMIM:246900
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Hyperkalemia, Eleva... ORPHA:556030
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Hyperkalemia OMIM:264350
Necrotizing Enterocolitis
Hyperglycemia, Lethargy, Abnormal glucose homeostasis, Hyponatremia ORPHA:391673
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Hyperkalemic Periodic Paralysis
Gait disturbance, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... ORPHA:682
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Diabetes mellitus, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia OMIM:613845
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy, Hyponatremia, Hypoglycemia ORPHA:173
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Increased total bilirubin, Hype... OMIM:267700
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Athetosis OMIM:266150
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia OMIM:222100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyponatremia, Hyperkalemia, Hypoglycemia, Le... ORPHA:199299
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Athetosis OMIM:618857
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Hypoglycemia OMIM:306000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating creatine kinase concentration, Gait imbalance, Lethargy, Hyp... OMIM:618120
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Essential Fructosuria
Hyperglycemia ORPHA:2056
Renal Hypoplasia, Bilateral
Lethargy, Hyponatremia, Glycosuria, Hyperkalemia ORPHA:97362
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Unsteady gait OMIM:520000
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Wolcott-Rallison Syndrome
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Hyperbilirubine... ORPHA:1667
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperuricemia, Hyperinsulinemia, Hyperglycemia, Hypertriglyceridemia, Decrease... OMIM:604367
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating fumarate concentration, Hyperalaninemia, Elevated circulatin... OMIM:615160
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsulinemia, Maturity... ORPHA:99886
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ... ORPHA:171876
Familial Hypoaldosteronism
Hyponatremia, Lethargy, Increased circulating renin level, Hyperkalemia ORPHA:427
Pyruvate Dehydrogenase E3 Deficiency
Hyperammonemia, Ataxia, Elevated circulating branched chain amino acid concentration, Hyperisoleu... ORPHA:2394
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Difficulty walking, Hyponatremia, Abnormal ci... ORPHA:100924
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Hyperkalemia, Hyponatremia, Decreased circulating co... ORPHA:361
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia OMIM:214700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyponatremia, Hypoglycemia, Hyperkalemia ORPHA:90790
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... OMIM:231100
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia, Hypoglycemia OMIM:616483
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Decreased c... ORPHA:90791
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Ataxia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating f... OMIM:603553
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level OMIM:607398
Alg8-Cdg
Hyponatremia, Ataxia ORPHA:79325
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Whipple Disease
Ataxia, Hyponatremia, Insulin resistance ORPHA:3452
Mirage Syndrome
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:617053
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Maple Syrup Urine Disease
Ataxia, Elevated circulating L-alloisoleucine concentration, Elevated circulating branched chain ... OMIM:248600
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Snakebite Envenomation
Hyponatremia ORPHA:449285
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Lethargy, Hypoglycemia ORPHA:156
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... ORPHA:95409
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypokalemia, Hyponatremia OMIM:613090
Hartsfield Syndrome
Hypernatremia OMIM:615465
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Mody
Neonatal hypoglycemia, Glycosuria, Abnormal oral glucose tolerance, Abnormal circulating C-peptid... ORPHA:552
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c, Hypoglycemia, Type I diabetes mellitus, Dystonia OMIM:616113
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Decreased plasma carnitine, Hypoglycemia OMIM:201450
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Pituitary Apoplexy
Increased circulating cortisol level, Hyponatremia, Hypoglycemia ORPHA:95613
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Opisthotonus, Lethargy, Hypoglycemia OMIM:210200
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hyperglycemia, Hypertriglyceridemia, Type II diabetes me... OMIM:615812
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Glycosuria, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic... ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyponatremia,... OMIM:610505
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... OMIM:618838
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Insulin resistance, Elevated hemoglob... ORPHA:69076
Legionnaires Disease
Hyponatremia, Ataxia ORPHA:549
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia ORPHA:293978
Addison Disease
Increased circulating renin level, Hyperuricemia, Decreased circulating cortisol level, Hyponatre... ORPHA:85138
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Type II diabetes mellitus, Hypoglycemia, Hyponatremia, Hypercalc... ORPHA:88673
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Japanese Encephalitis
Choreoathetosis, Tremor, Pill-rolling tremor, Opisthotonus, Hyponatremia, Dystonia ORPHA:79139
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... ORPHA:168558
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia ORPHA:810
Ch├ędiak-Higashi Syndrome
Hypoproteinemia, Inability to walk, Gait disturbance, Ataxia, Hypertriglyceridemia, Tremor, Incre... ORPHA:167
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... ORPHA:289548
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperammonemia, Acute hyperammonemia, Hyperleucinemia, Opisthotonus, Decreased plasma carnitine, ... OMIM:210210
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypertriglyceridemia, Hypoglycemia OMIM:613027
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia, Hypoglycemia ORPHA:91355
Infant Botulism
Hyponatremia ORPHA:178478
Familial Dysautonomia
Gait disturbance, Hyponatremia, Ataxia ORPHA:1764
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormal circulating lipid concentration, Glycosuria, Postprandial hypergly... ORPHA:2298
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Cystinosis, Nephropathic
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hypokalemia, Reduced blood urea nitrogen, Hypoph... OMIM:219800
Holoprosencephaly
Diabetes mellitus, Dystonia, Hyponatremia, Hypoglycemia ORPHA:2162
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hypouricemia, Hypoglycemia OMIM:616026
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95513
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypokalemia, Hyponatremia OMIM:602522
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
Acute Intermittent Porphyria
Tremor, Hyponatremia ORPHA:79276
Stiff-Person Syndrome
Diabetes mellitus, Exaggerated startle response, Opisthotonus OMIM:184850
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Ataxia OMIM:618426
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk OMIM:609541
Bartter Syndrome Type 4
Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, ... ORPHA:89938
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk OMIM:620114
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyperlipidemia, Hyponatremia, Hyperkalemia ORPHA:293987
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Hypochloremia, Hyperkalemia, Hyponatremia, Decreased circulating cortisol ... ORPHA:90794
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Tay-Sachs Disease
Inability to walk, Gait disturbance, Tremor, Exaggerated startle response, Laryngeal dystonia, In... ORPHA:845
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Dystonia, Broad-based gait ORPHA:438216
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hyperglycemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, T... OMIM:151660
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk OMIM:617864
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Hyperkalemia, Elevated serum 11-deoxycortisol, Hypoglycemia, H... OMIM:201750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Glycosuria, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets... ORPHA:3337
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Inability to walk, Dystonia OMIM:617804

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 Dhx30

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 Dhx30.

No publications found that use IMPC mice or data for Dhx30.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dhx30tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Dhx30tm78724(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dhx30tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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