Gene Summary

Name:
DEAD box helicase 39a
Synonyms:
2610307C23Rik,  Ddx39,  BAT1

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 skin coloration Ddx39atm1b(KOMP)Wtsi HET Early adult 6.29×10-05
preweaning lethality, complete penetrance Ddx39atm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal embryo size Ddx39atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal placenta vasculature Ddx39atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal coat appearance Ddx39atm1b(KOMP)Wtsi HET Early adult 7.54×10-09
increased circulating phosphate level Ddx39atm1b(KOMP)Wtsi HET Early adult 1.54×10-11
preweaning lethality, incomplete penetrance Ddx39atm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal placenta size Ddx39atm1b(KOMP)Wtsi HOM E18.5 0.00
decreased prepulse inhibition Ddx39atm1b(KOMP)Wtsi HET Early adult 3.44×10-07
abnormal placenta morphology Ddx39atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal embryo size Ddx39atm1b(KOMP)Wtsi HOM E12.5 0.00

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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Mesenteric lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 0.0% (0 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cecum N/A heterozygote Not available
Eye N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Urinary bladder N/A heterozygote 100% (2 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (1 of 1)
Axial skeleton N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Central nervous system ganglion N/A heterozygote 100% (1 of 1)
Cranium N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote 100% (1 of 1)
Embryo N/A heterozygote 100% (1 of 1)
Outer ear N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Femur pre-cartilage condensation N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forearm N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Fronto-nasal process N/A heterozygote 100% (1 of 1)
Gut N/A heterozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Head mesenchyme N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart ventricle N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Humerus pre-cartilage condensation N/A heterozygote 100% (1 of 1)
Inner ear N/A heterozygote 100% (1 of 1)
Intestine N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 100% (1 of 1)
Lower leg N/A heterozygote 100% (1 of 1)
Lung N/A heterozygote 100% (1 of 1)
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Mesonephros of female N/A heterozygote 100% (1 of 1)
Mesonephros of male N/A heterozygote Not available
Metanephros N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Nasal septum N/A heterozygote 100% (1 of 1)
Nose N/A heterozygote 100% (1 of 1)
Notochord N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Outflow tract N/A heterozygote 100% (1 of 1)
Pancreas N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
Pharynx N/A heterozygote 100% (1 of 1)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (1 of 1)
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
Skeleton N/A heterozygote 100% (1 of 1)
Skin N/A heterozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (1 of 1)
Tongue N/A heterozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Trunk mesenchyme N/A heterozygote 100% (1 of 1)
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)
Upper arm N/A heterozygote 100% (1 of 1)
Upper leg N/A heterozygote 100% (1 of 1)
Urinary system N/A heterozygote 100% (1 of 1)
Vibrissa N/A heterozygote 100% (1 of 1)

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)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 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%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
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)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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 Wholemount

24 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

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Ddx39a 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 Ddx39a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Autosomal Dominant Hypocalcemia
Alopecia, Fatigable weakness, Hypomagnesemia, Irregular hyperpigmentation, Hypocalcemia, Hyperpho... ORPHA:428
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hypocalc... ORPHA:99845
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Alopecia, Hyperphosphatemia, Abnormal hair quantity, Multiple cafe-au-lait spots ORPHA:457059
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Melanocytic nevus OMIM:101800
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hypophosphatemia ORPHA:2611
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Colchicine Poisoning
Hyponatremia, Hypokalemia, Alopecia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blo... ORPHA:31824
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Fair hair, Red hair ORPHA:280651
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Hypocalcemia ORPHA:93160
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Fibrous Dysplasia Of Bone
Hypercalcemia, Large cafe-au-lait macules with irregular margins, Hypophosphatemia, Multiple cafe... ORPHA:249
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Opsismodysplasia
Hypophosphatemia OMIM:258480
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Dent Disease 1
Hypophosphatemia OMIM:300009
Mccune-Albright Syndrome
Large cafe-au-lait macules with irregular margins, Hypophosphatemia ORPHA:562
Raine Syndrome
Highly arched eyebrow, Hypophosphatemia OMIM:259775
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Pearson Syndrome
Hypokalemia, Hyperpigmentation of the skin, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Hy... ORPHA:699
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Sparse scalp hair, ... ORPHA:534
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia OMIM:229600
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia, Multiple cafe-au-lait spots ORPHA:437
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Abnormality of hair texture ORPHA:667
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936

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 Ddx39a

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 Ddx39a.

No publications found that use IMPC mice or data for Ddx39a.

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MGI Allele Allele Type Produced
Ddx39atm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ddx39atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ddx39atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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