Gene Summary

Name:
DEAH (Asp-Glu-Ala-His) box polypeptide 29
Synonyms:
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
abnormal neural tube closure Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
decreased lean body mass Dhx29tm1.1(KOMP)Vlcg HET Early adult 7.32×10-05
embryonic growth retardation Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
increased urine magnesium level Dhx29tm1.1(KOMP)Vlcg HET Early adult 5.65×10-06
preweaning lethality, complete penetrance Dhx29tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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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)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
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.

Gross Morphology Embryo E9.5

Images

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

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 Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E12.5

Images

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 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
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Hypomagnesemia 3, Renal
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... OMIM:248250
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
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting ORPHA:564178
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hypomagnesemia 2, Renal
Renal insufficiency, Hypocalciuria, Renal magnesium wasting OMIM:154020
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... ORPHA:2197
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosi... OMIM:616963
East Syndrome
Renal sodium wasting, Renal salt wasting, Abnormal urinary electrolyte concentration, Renal magne... ORPHA:199343
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hyperprost... ORPHA:73224
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria ORPHA:428
Familial Hypocalciuric Hypercalcemia
Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... ORPHA:405
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria OMIM:612286
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Gitelman Syndrome
Nocturia, Failure to thrive, Polyuria, Hypocalciuria, Renal magnesium wasting, Enuresis, Renal po... OMIM:263800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis, Nephrolit... OMIM:143880
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... OMIM:613388
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... OMIM:300555
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria OMIM:615605
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... OMIM:134600
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Bartter Syndrome, Type 3
Renal salt wasting, Hyperchloriduria, Increased urinary potassium, Polyuria, Hypocalciuria, Impai... OMIM:607364
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Hypernatriuria, Hyperchloriduria, Failure to thrive, Increased urinary potass... OMIM:613090
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... ORPHA:3337
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Renal salt wasting OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Renal salt wasting OMIM:203400
Apparent Mineralocorticoid Excess
Renal sodium wasting, Failure to thrive, Nephrocalcinosis, Renal insufficiency, Abnormal urine so... ORPHA:320
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Failu... OMIM:602522
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria ORPHA:99879
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Weight loss, Nephrotic syndrome, Renal inter... ORPHA:85450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Large for gestational age, Nephrocalcinosis, Protei... OMIM:616026
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Ren... OMIM:218330
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Renal salt wasting OMIM:264350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Failure to thrive, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kid... OMIM:613845
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Nephrolithiasis, Hypercalciuria OMIM:145980
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyposthenuria, Hypernatriuria OMIM:300539
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal sodium wasting, Renal salt wasting, Polyuria, Hypocalciuria, Enuresis, Renal potassium wasting OMIM:612780
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Renal salt wasting OMIM:614736
Familial Hypoaldosteronism
Failure to thrive, Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis ORPHA:427
Fanconi-Bickel Syndrome
Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Failure to thrive, Renal tubular dysfun... OMIM:227810
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Failure to thri... ORPHA:2088
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Small for gestational age, Hyperprostaglandinuria, Renal salt wasting, Hyperchlori... OMIM:601678
Bartter Syndrome Type 4
Impaired renal concentrating ability, Small for gestational age, Acute kidney injury, Stage 5 chr... ORPHA:89938
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria OMIM:601198
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting ORPHA:556037
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria OMIM:614732
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Failure to thrive, Renal tubula... OMIM:241530
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... ORPHA:436271
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... ORPHA:84081
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria ORPHA:157215
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting ORPHA:556030
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium OMIM:611489
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... OMIM:220110
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Small for gestational age, Hyperprostaglandinuria, Renal salt wasting, Hyperchlori... OMIM:241200
Adrenal Hypoplasia, Congenital
Failure to thrive, Renal salt wasting OMIM:300200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Hypophosphatasia, Infantile
Phosphoethanolaminuria, Elevated urine pyrophosphate, Failure to thrive, Nephrocalcinosis, Hyperc... OMIM:241500
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Failure to thrive, Polyuria, Hypercalciuria OMIM:239200
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Medullary nephrocalcinosis, Hypercalciuria OMIM:300971
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Alg3-Cdg
Neural tube defect ORPHA:79321
Familial Glucocorticoid Deficiency
Weight loss, Recurrent urinary tract infections, Hypernatriuria, Renal salt wasting, Failure to t... ORPHA:361
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria OMIM:613677
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Abnormal tubulointerstitial morp... ORPHA:411629
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Large for gestational age, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercal... OMIM:615398
Helix Syndrome
Renal insufficiency, Polyuria, Hypocalciuria, Nephrolithiasis OMIM:617671
Oculoskeletodental Syndrome
Small for gestational age, Renal agenesis, Mucopolysacchariduria, Hypercalciuria OMIM:618440
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level OMIM:239000
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hypospadias, Penoscrotal hypospadias, Renal salt wasting ORPHA:90791
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... OMIM:229600
Cystinosis, Nephropathic
Aminoaciduria, Weight loss, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematu... OMIM:219800
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Acute Adrenal Insufficiency
Weight loss, Renal salt wasting, Failure to thrive, Renal insufficiency, Decreased urinary potassium ORPHA:95409
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria OMIM:156400
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Failure to thrive, Hypocalciuria, Nephrocalcinosis, R... ORPHA:437
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Renal sal... ORPHA:168558
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Weight loss, Cachexia, Renal salt wasting, Hypernatriuria... ORPHA:275761
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Renal sal... ORPHA:289548
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Renal salt wasting, Long penis ORPHA:90795
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Failure to ... ORPHA:358
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney OMIM:163200
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... OMIM:277900
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Renal tubular dysfunction ORPHA:562
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Failure to thrive, Complex organic aciduria, 3-Methylglutaric aciduria... OMIM:557000
Parathyroid Carcinoma
Nephroblastoma, Weight loss, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, ... ORPHA:143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Renal dysplasia, Renal cyst, Abnormality of the urinary system, Nephrocalc... ORPHA:369837
Addison Disease
Failure to thrive, Renal salt wasting, Decreased urinary potassium, Weight loss ORPHA:85138
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Thyrotoxic Periodic Paralysis
Urinary retention, Obesity, Decreased urinary potassium, Weight loss ORPHA:79102
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... OMIM:309000
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:99880
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Weight loss, Elevated urinary epinephrine, Renal salt wasting, Long pen... ORPHA:90794
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Elevated urinary epineph... ORPHA:653
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula... ORPHA:534
Gaisböck Syndrome
Nephrocalcinosis, Obesity, Hypernatriuria, Overweight ORPHA:90041
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Large for gestatio... ORPHA:116
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Semilobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93924
Leprechaunism
Decreased body weight, Enlarged kidney, Long penis, Failure to thrive, Nephrocalcinosis, Hypercal... ORPHA:508
Williams Syndrome
Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Nephrocalcinosis, H... ORPHA:904
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Williams-Beuren Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Nephrocalcinosis, Bladder diverticulum... OMIM:194050
Osteogenesis Imperfecta
Small for gestational age, Nephrolithiasis, Hypercalciuria ORPHA:666
Cystic Fibrosis
Failure to thrive, Hypercalciuria OMIM:219700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Weight loss OMIM:181000
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis, Weight loss ORPHA:652
Sarcoidosis
Tubulointerstitial nephritis, Weight loss, Nephrocalcinosis, Renal insufficiency, Nephrolithiasis... ORPHA:797
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Nephrocalcinosis, Failu... 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.

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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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