Gene Summary

Name:
DExH-box helicase 29
Synonyms:
DEAH (Asp-Glu-Ala-His) box polypeptide 29,  E130202M19Rik

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 urine magnesium level Dhx29tm1.1(KOMP)Vlcg HET Early adult 5.65×10-06
embryonic growth retardation Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube closure Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
impaired glucose tolerance Dhx29tm1.1(KOMP)Vlcg HET   Early adult 5.20×10-05
abnormal embryo turning Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Dhx29tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased lean body mass Dhx29tm1.1(KOMP)Vlcg HET Early adult 7.32×10-05
abnormal embryo size Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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  Section images heterozygote 100% (2 of 2)
Aorta  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 Not available
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 100% (2 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 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
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 2)
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 0.0% (0 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 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 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
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 0.0%
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.

Adult LacZ

LacZ Images Section

43 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

Sleep Wake

Wake state (bmp file)

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E9.5

Images

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E12.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

2 Images

Human diseases caused by Dhx29 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 Dhx29 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit... OMIM:248250
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypocalciuria OMIM:154020
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal potassium wasting, Polyuria, Nephrocalcinosis, Renal magnesium wasting OMIM:618314
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
East Syndrome
Renal salt wasting, Enuresis, Renal sodium wasting, Renal magnesium wasting, Abnormal urinary ele... ORPHA:199343
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption, Hypermagnesiuria, Neph... ORPHA:73224
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria ORPHA:428
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium clearance to creatinine clearance,... ORPHA:405
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypercalciuria, Hyperphosphaturia, Nephrolithiasis, Renal phosphate wasting OMIM:612286
Gitelman Syndrome
Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Failure to thrive, Nocturia, Renal ma... OMIM:263800
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria OMIM:615605
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypoglyc... OMIM:616026
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Failure to thrive, Nephrocalcinosis, Renal tubular acidosis OMIM:239199
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormality of the kidney, Hypoinsulinemia, Ren... ORPHA:552
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypospadias OMIM:201910
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic... OMIM:300555
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... OMIM:134600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Nephrolithiasis, Renal phosphate wasting OMIM:612287
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Impaired... ORPHA:2088
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Chronic kid... OMIM:613845
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Nephrocal... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Failure to ... OMIM:613090
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Failure to thrive, Hypoglycemia OMIM:614736
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Failure to thrive OMIM:610600
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... ORPHA:85450
Cranioectodermal Dysplasia 1
Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney disease, Renal mag... OMIM:218330
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Failure to thrive OMIM:203400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer... OMIM:602522
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Generalized aminoaciduria, Hypercalciuria, Renal tubular dysfunction, Beta ... OMIM:227810
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema... ORPHA:411634
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Renal insufficiency ORPHA:99879
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Failure to thrive OMIM:264350
Renal Tubular Acidosis, Proximal
Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300554
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi... ORPHA:47159
Familial Glucocorticoid Deficiency
Renal salt wasting, Hypoglycemic seizures, Ketotic hypoglycemia, Recurrent urinary tract infectio... ORPHA:361
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyposthenuria, Hypernatriuria OMIM:300539
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Renal sodium wasting OMIM:612780
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Apparent Mineralocorticoid Excess
Failure to thrive, Nephrocalcinosis, Renal insufficiency, Abnormal urine sodium concentration ORPHA:320
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Failure to thrive, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoacidu... ORPHA:436271
Familial Hypoaldosteronism
Renal salt wasting, Failure to thrive, Decreased urinary potassium, Proximal renal tubular acidosis ORPHA:427
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hyperc... ORPHA:89938
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... OMIM:601678
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting ORPHA:556037
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Hypercalciuria, Failure to thrive, Calcium nephrolithiasis, Renal tubula... OMIM:241530
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Failure to thrive, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoacidu... OMIM:220110
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias OMIM:614732
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis OMIM:601198
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Red... ORPHA:84081
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting ORPHA:556030
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypocalci... OMIM:145981
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis ORPHA:157215
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... OMIM:241200
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Maturity-onset diabetes of the young, Multiple glomerular cysts, Hypos... OMIM:137920
Adrenal Hypoplasia, Congenital
Renal salt wasting, Failure to thrive OMIM:300200
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Renal tubular acidosis, Renal potassium wasting, Focal s... ORPHA:358
Alg3-Cdg
Neural tube defect ORPHA:79321
Hypophosphatasia, Infantile
Hypercalciuria, Elevated urine pyrophosphate, Failure to thrive, Nephrocalcinosis, Phosphoethanol... OMIM:241500
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Failure to t... ORPHA:416
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Failure to thrive, Renal Fanconi... ORPHA:411629
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium OMIM:611489
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Neonatal hypoglycemia, Penoscrotal hypospadias, Hypospadias, Failure to thrive ORPHA:90791
Hyperparathyroidism, Neonatal Severe
Polyuria, Hypercalciuria, Failure to thrive, Hyperphosphaturia, Aminoaciduria OMIM:239200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis OMIM:300971
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Cystinosis, Nephropathic
Low-molecular-weight proteinuria, Polyuria, Hematuria, Generalized aminoaciduria, Medullary nephr... OMIM:219800
Fructose Intolerance, Hereditary
Bicarbonaturia, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hyp... OMIM:229600
Acute Adrenal Insufficiency
Renal salt wasting, Failure to thrive, Weight loss, Hypoglycemia, Decreased urinary potassium, Re... ORPHA:95409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalc... OMIM:615398
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Neonatal hypoglycemia, Urogenital sinus anomaly, Failure to thrive, Midshaft ... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Neonatal hypoglycemia, Urogenital sinus anomaly, Failure to thrive, Midshaft ... ORPHA:289548
Oculoskeletodental Syndrome
Mucopolysacchariduria, Renal agenesis, Hypercalciuria, Small for gestational age OMIM:618440
Helix Syndrome
Polyuria, Renal insufficiency, Nephrolithiasis, Hypocalciuria OMIM:617671
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Failure to thrive, Increased urine deoxypyridinoline level, Hydroxyprolinuria OMIM:239000
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Addison Disease
Renal salt wasting, Hypoglycemia, Failure to thrive, Weight loss, Type I diabetes mellitus, Decre... ORPHA:85138
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, Failure to thrive, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex org... OMIM:557000
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Cachexia, Failure to thrive, Hypernatriuria, Abnormal urine potassium concent... ORPHA:275761
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis OMIM:156400
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Gaisböck Syndrome
Diabetes mellitus, Nephrocalcinosis, Obesity, Hypernatriuria, Overweight ORPHA:90041
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long penis ORPHA:90795
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Postprandial hyperglycemia ORPHA:79102
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Hypercalciuria, Decreased bo... ORPHA:508
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney OMIM:163200
Mccune-Albright Syndrome
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction ORPHA:562
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Neonatal hypoglycemia, Long penis, Elevated urinary epinephrine level, Urogen... ORPHA:90794
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Renal dysplasia, Ab... ORPHA:369837
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Weight loss, Neph... ORPHA:143
Wilson Disease
Increased urinary copper concentration, Hypercalciuria, Nephrolithiasis, Glycosuria, Hyperphospha... OMIM:277900
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Fai... ORPHA:534
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:99880
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal phosphate wasting ORPHA:289176
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Failure to thrive, Hyperphosphaturia, Renal Fan... OMIM:309000
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... ORPHA:653
Beckwith-Wiedemann Syndrome
Large for gestational age, Neonatal hypoglycemia, Ureteral duplication, Enlarged kidney, Congenit... ORPHA:116
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Williams-Beuren Syndrome
Glucose intolerance, Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurrent ur... OMIM:194050
Semilobar Holoprosencephaly
Short stature, Neural tube defect, Hydrocephalus, Growth delay ORPHA:220386
Alobar Holoprosencephaly
Short stature, Neural tube defect, Hydrocephalus, Growth delay ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Neural tube defect, Hydrocephalus, Growth delay ORPHA:93926
Lobar Holoprosencephaly
Short stature, Neural tube defect, Hydrocephalus, Growth delay ORPHA:93924
Williams Syndrome
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... ORPHA:904
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Nephrocalcinosis, Renal dysplasia OMIM:300990
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Cystic Fibrosis
Hypercalciuria, Failure to thrive OMIM:219700
Osteogenesis Imperfecta
Hypercalciuria, Small for gestational age, Nephrolithiasis ORPHA:666
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Weight loss OMIM:181000
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis, Weight loss ORPHA:652
Sarcoidosis
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Weight loss, Renal insufficiency, Tubulointers... ORPHA:797
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Generalized Arterial Calcification Of Infancy
Medullary nephrocalcinosis, Hyperphosphaturia, Nephrocalcinosis, Failure to thrive in infancy, Co... ORPHA:51608

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 Dhx29

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 Dhx29.

No publications found that use IMPC mice or data for Dhx29.

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
Dhx29tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dhx29tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Dhx29tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Dhx29tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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