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
decreased lean body mass Dhx29tm1.1(KOMP)Vlcg HET Early adult 7.60×10-05
abnormal embryo size Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
increased urine magnesium level Dhx29tm1.1(KOMP)Vlcg HET Early adult 6.91×10-06
embryonic growth retardation Dhx29tm1.1(KOMP)Vlcg HOM E9.5 0.00
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

43 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

Gross Morphology Embryo E9.5

Images

13 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E12.5

Images

4 Images

Sleep Wake

Wake state (bmp file)

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 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
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypomagnesemia 3, Renal
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... OMIM:248250
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... OMIM:248190
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Obesity ORPHA:34527
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis ORPHA:564178
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Proximal tubulopathy, Decr... ORPHA:18
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Failure to thrive, Renal phosphate wasting, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
East Syndrome
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... ORPHA:199343
Tubular Renal Disease-Cardiomyopathy Syndrome
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... ORPHA:73224
Autosomal Dominant Hypocalcemia
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis ORPHA:428
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis OMIM:612286
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... ORPHA:405
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis OMIM:239199
Gitelman Syndrome
Failure to thrive, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal ma... OMIM:263800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Nephrolithiasis OMIM:612287
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoaciduria, Protei... OMIM:616026
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Renal insuf... OMIM:613090
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Failure to thrive OMIM:614736
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Tubulointer... OMIM:602522
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... 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, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wastin... OMIM:613845
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Failure to thrive OMIM:610600
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Failure to thrive OMIM:203400
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria OMIM:612780
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting, Failure to thrive OMIM:264350
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Hypercalciuria, Nephrolithiasis OMIM:145980
Cranioectodermal Dysplasia 1
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting OMIM:218330
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis ORPHA:99879
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Failure to thrive, Proximal tubulopathy, Stage 5 chronic kidney disease, ... ORPHA:411634
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, F... ORPHA:47159
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Hydr... ORPHA:1908
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria OMIM:614732
Familial Hypoaldosteronism
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis, Failure to thrive ORPHA:427
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Failure to thrive, Nephrocalcinosis ORPHA:320
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Glyco... OMIM:227810
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria OMIM:300539
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Failure to thrive, Renal tubular ... ORPHA:2088
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... OMIM:601678
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting ORPHA:556037
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... OMIM:220110
Alg3-Cdg
Neural tube defect ORPHA:79321
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... ORPHA:436271
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria OMIM:601198
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Failure to thrive, Renal phosphate wasting, Calcium nephrolithiasis, H... OMIM:241530
Infantile Bartter Syndrome With Sensorineural Deafness
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... ORPHA:89938
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... OMIM:277900
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting ORPHA:556030
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria ORPHA:157215
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... OMIM:241200
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Phosphoethanolaminuria, Hyperc... OMIM:241500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Adrenal Hypoplasia, Congenital
Renal salt wasting, Failure to thrive OMIM:300200
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Failure to thrive, A... ORPHA:416
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Aminoaciduria, Failure to thrive, Hypercalciuria, Polyuria OMIM:239200
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss, Recurrent urinary tract infections, Renal salt wasting, Hypernatr... ORPHA:361
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Abnormal... 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
Nephrocalcinosis, Renal cyst, Large for gestational age, Ureteral stenosis, Hypercalciuria OMIM:615398
Helix Syndrome
Hypocalciuria, Polyuria, Renal insufficiency, Nephrolithiasis OMIM:617671
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Oculoskeletodental Syndrome
Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Small for gestational age OMIM:618440
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Failure to thrive, Proximal tubulopathy, Proximal ren... OMIM:229600
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Renal salt wasting, Penoscrotal hypospadias, Failure to thrive ORPHA:90791
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Short stature OMIM:617660
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Acute Adrenal Insufficiency
Failure to thrive, Weight loss, Decreased urinary potassium, Renal salt wasting, Renal insufficiency ORPHA:95409
Iniencephaly
Myelomeningocele, Anencephaly, Holoprosencephaly, Rhizomelia, Spina bifida, Hydrocephalus, Spinal... ORPHA:63259
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis OMIM:156400
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium conce... ORPHA:168558
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium conce... ORPHA:289548
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Hypophosphatemic Rickets
Hyperphosphaturia, Nephrocalcinosis, Failure to thrive, Hypocalciuria, Renal phosphate wasting, H... ORPHA:437
Lysosomal Acid Lipase Deficiency
Cachexia, Failure to thrive, Weight loss, Abnormal urine potassium concentration, Renal salt wast... ORPHA:275761
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level ORPHA:90795
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Failure... ORPHA:358
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney OMIM:163200
Mccune-Albright Syndrome
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction ORPHA:562
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital megaureter, Rena... ORPHA:369837
Addison Disease
Renal salt wasting, Weight loss, Decreased urinary potassium, Failure to thrive ORPHA:85138
Parathyroid Carcinoma
Nephrocalcinosis, Weight loss, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency,... ORPHA:143
Thyrotoxic Periodic Paralysis
Obesity, Weight loss, Decreased urinary potassium, Urinary retention ORPHA:79102
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia ORPHA:289176
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated urinary catecholam... ORPHA:653
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Failure to thrive, Proximal renal tubular acidosis, Am... OMIM:309000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Elevated urinary epinephrine, Long penis, Failure to thrive, Weight loss, Urogenital sinus anomal... ORPHA:90794
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... ORPHA:99880
Gaisböck Syndrome
Obesity, Overweight, Hypernatriuria, Nephrocalcinosis ORPHA:90041
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Failure to thrive, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis,... ORPHA:534
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
X-Linked Hypophosphatemia
Hypocalciuria, Renal phosphate wasting ORPHA:89936
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Renal dysplasia, Hypercalciuria, Nephrocalcinosis OMIM:300990
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital megaureter, Nephrolithiasis, Large for gestational age, Multiple... ORPHA:116
Leprechaunism
Long penis, Nephrocalcinosis, Failure to thrive, Decreased body weight, Hypercalciuria, Enlarged ... ORPHA:508
Williams Syndrome
Renal hypoplasia, Failure to thrive in infancy, Hypoplasia of penis, Urethral stenosis, Renovascu... ORPHA:904
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Hypercalciuria, Microscopic nephrocalcinosis OMIM:219721
Williams-Beuren Syndrome
Renal hypoplasia, Failure to thrive in infancy, Urethral stenosis, Nephrocalcinosis, Pelvic kidne... OMIM:194050
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis, Small for gestational age ORPHA:666
Cystic Fibrosis
Failure to thrive, Hypercalciuria OMIM:219700
Sarcoidosis, Susceptibility To, 1
Weight loss, Hypercalciuria OMIM:181000
Multiple Endocrine Neoplasia Type 1
Weight loss, Hypercalciuria, Nephrolithiasis ORPHA:652
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Sarcoidosis
Tubulointerstitial nephritis, Nephrocalcinosis, Weight loss, Nephrolithiasis, Hypercalciuria, Ren... ORPHA:797
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Failure to thrive in infancy, Nephrocalcinosis, Medullary nephrocalcinosis, 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.

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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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